Trait: skin carcinoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009259
Description A carcinoma that arises from epithelial cells of the zone of skin [MONDO: DesignPattern]
Trait category
Cancer
Synonyms 14 synonyms
  • Carcinoma of Skin
  • Carcinoma of the Skin
  • Skin Cancer
  • Skin Carcinoma
  • carcinoma of skin
  • carcinoma of the skin
  • carcinoma of zone of skin
  • non-melanoma cancer of skin
  • non-melanoma cancer of the skin
  • non-melanoma skin cancer
  • nonmelanoma skin cancer
  • skin cancer, non-melanoma
  • skin carcinoma
  • zone of skin carcinoma
Mapped term(s) 4 mapped terms
  • DOID:3451
  • NCIT:C4914
  • UMLS:C0699893
  • UMLS_CUI:C0699893
Child trait(s) 5 child traits

Associated Polygenic Score(s)

Note: This table shows all PGS for "skin carcinoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000079 CC_Melanoma PGP000050 Graff RE et al. bioRxiv (2020) Pre Melanoma melanoma 24 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000079/ScoringFiles/PGS000079.txt.gz
PGS000118 MEL29 PGP000055 Fritsche LG et al. PLoS Genet (2019) Melanoma melanoma 29 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000118/ScoringFiles/PGS000118.txt.gz
PGS000119 BCC32 PGP000055 Fritsche LG et al. PLoS Genet (2019) Basal cell carcinoma basal cell carcinoma 32 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000119/ScoringFiles/PGS000119.txt.gz
PGS000120 SCC10 PGP000055 Fritsche LG et al. PLoS Genet (2019) Squamous cell carcinoma squamous cell carcinoma 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000120/ScoringFiles/PGS000120.txt.gz
PGS000157 cGRS_Melanoma PGP000075 Shi Z et al. Cancer Med (2019) Melanoma melanoma 17 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000157/ScoringFiles/PGS000157.txt.gz
PGS000339 PRS22_CM PGP000106 Law MH et al. Hum Mol Genet (2020) Cutaneous melanoma cutaneous melanoma 22 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000339/ScoringFiles/PGS000339.txt.gz
PGS000398 PRSWEB_PHECODE172_20001-1003_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 1,103,220 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000398/ScoringFiles/PGS000398.txt.gz
PGS000399 PRSWEB_PHECODE172_20001-1003_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 6 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000399/ScoringFiles/PGS000399.txt.gz
PGS000400 PRSWEB_PHECODE172_C3-SKIN_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 95 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000400/ScoringFiles/PGS000400.txt.gz
PGS000401 PRSWEB_PHECODE172_C3-SKIN_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 1,111,490 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000401/ScoringFiles/PGS000401.txt.gz
PGS000402 PRSWEB_PHECODE172_C3-SKIN_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 389 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000402/ScoringFiles/PGS000402.txt.gz
PGS000403 PRSWEB_PHECODE172_C3-SKIN_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 16,316 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000403/ScoringFiles/PGS000403.txt.gz
PGS000404 PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 80 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000404/ScoringFiles/PGS000404.txt.gz
PGS000405 PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 1,119,238 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000405/ScoringFiles/PGS000405.txt.gz
PGS000406 PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 292 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000406/ScoringFiles/PGS000406.txt.gz
PGS000407 PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Skin cancer skin carcinoma 3,166 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000407/ScoringFiles/PGS000407.txt.gz
PGS000408 PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000408/ScoringFiles/PGS000408.txt.gz
PGS000409 PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 1,111,490 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000409/ScoringFiles/PGS000409.txt.gz
PGS000410 PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 7 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000410/ScoringFiles/PGS000410.txt.gz
PGS000411 PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 185 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000411/ScoringFiles/PGS000411.txt.gz
PGS000412 PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 16 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000412/ScoringFiles/PGS000412.txt.gz
PGS000413 PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 1,111,490 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000413/ScoringFiles/PGS000413.txt.gz
PGS000414 PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 21 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000414/ScoringFiles/PGS000414.txt.gz
PGS000415 PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 505 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000415/ScoringFiles/PGS000415.txt.gz
PGS000416 PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 9 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000416/ScoringFiles/PGS000416.txt.gz
PGS000417 PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 1,109,519 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000417/ScoringFiles/PGS000417.txt.gz
PGS000418 PRSWEB_PHECODE172.1_C43_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 9 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000418/ScoringFiles/PGS000418.txt.gz
PGS000419 PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 436 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000419/ScoringFiles/PGS000419.txt.gz
PGS000420 PRSWEB_PHECODE172.1_D03_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 147 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000420/ScoringFiles/PGS000420.txt.gz
PGS000421 PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 18 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000421/ScoringFiles/PGS000421.txt.gz
PGS000422 PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 18 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000422/ScoringFiles/PGS000422.txt.gz
PGS000423 PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 29 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000423/ScoringFiles/PGS000423.txt.gz
PGS000424 PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 27 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000424/ScoringFiles/PGS000424.txt.gz
PGS000425 PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 20 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000425/ScoringFiles/PGS000425.txt.gz
PGS000426 PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 20 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000426/ScoringFiles/PGS000426.txt.gz
PGS000427 PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 20 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000427/ScoringFiles/PGS000427.txt.gz
PGS000428 PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 20 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000428/ScoringFiles/PGS000428.txt.gz
PGS000429 PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 12 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000429/ScoringFiles/PGS000429.txt.gz
PGS000430 PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 1,119,238 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000430/ScoringFiles/PGS000430.txt.gz
PGS000431 PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 15 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000431/ScoringFiles/PGS000431.txt.gz
PGS000432 PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Melanomas of skin (diagnosis or history) melanoma 296 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000432/ScoringFiles/PGS000432.txt.gz
PGS000445 PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 19 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000445/ScoringFiles/PGS000445.txt.gz
PGS000446 PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 1,111,490 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000446/ScoringFiles/PGS000446.txt.gz
PGS000447 PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 72 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000447/ScoringFiles/PGS000447.txt.gz
PGS000448 PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 183 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000448/ScoringFiles/PGS000448.txt.gz
PGS000449 PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 1,073,162 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000449/ScoringFiles/PGS000449.txt.gz
PGS000450 PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 8 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000450/ScoringFiles/PGS000450.txt.gz
PGS000451 PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 2,231 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000451/ScoringFiles/PGS000451.txt.gz
PGS000452 PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 28 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000452/ScoringFiles/PGS000452.txt.gz
PGS000453 PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 28 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000453/ScoringFiles/PGS000453.txt.gz
PGS000454 PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 27 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000454/ScoringFiles/PGS000454.txt.gz
PGS000455 PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 28 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000455/ScoringFiles/PGS000455.txt.gz
PGS000456 PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 30 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000456/ScoringFiles/PGS000456.txt.gz
PGS000457 PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 30 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000457/ScoringFiles/PGS000457.txt.gz
PGS000458 PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 23 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000458/ScoringFiles/PGS000458.txt.gz
PGS000459 PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Basal cell carcinoma basal cell carcinoma 24 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000459/ScoringFiles/PGS000459.txt.gz
PGS000460 PRSWEB_PHECODE172.22_20001-1062_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 4,279,140 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000460/ScoringFiles/PGS000460.txt.gz
PGS000461 PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 13 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000461/ScoringFiles/PGS000461.txt.gz
PGS000462 PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 13 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000462/ScoringFiles/PGS000462.txt.gz
PGS000463 PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 7 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000463/ScoringFiles/PGS000463.txt.gz
PGS000464 PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 14 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000464/ScoringFiles/PGS000464.txt.gz
PGS000465 PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000465/ScoringFiles/PGS000465.txt.gz
PGS000466 PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 10 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000466/ScoringFiles/PGS000466.txt.gz
PGS000467 PRSWEB_PHECODE172.22_cSCC-Chahal_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 6 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000467/ScoringFiles/PGS000467.txt.gz
PGS000468 PRSWEB_PHECODE172.22_cSCC-Chahal_PT_UKB_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Squamous cell carcinoma squamous cell carcinoma 9 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000468/ScoringFiles/PGS000468.txt.gz
PGS000469 PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PRS-CS_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Carcinoma in situ of skin skin carcinoma in situ 1,119,238 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000469/ScoringFiles/PGS000469.txt.gz
PGS000470 PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PT_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Carcinoma in situ of skin skin carcinoma in situ 5 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000470/ScoringFiles/PGS000470.txt.gz
PGS000471 PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_LASSOSUM_MGI_20200608 PGP000118 Fritsche LG et al. Am J Hum Genet (2020) Carcinoma in situ of skin skin carcinoma in situ 7 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000471/ScoringFiles/PGS000471.txt.gz

PGS Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance Metric ID
(PPM ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000199 PGS000079 (CC_Melanoma) PSS000118 PGP000050
Graff RE et al. (2020)
Pre
Reported Trait: Melanoma OR: 1.44 [1.41, 1.48] Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. Results from meta-analysis of GERA and UKB
PPM000348 PGS000118 (MEL29) PSS000210 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Melanoma OR: 1.5 [1.44, 1.55] age, sex, genotyping array, first 4 genotype PCs
PPM000347 PGS000119 (BCC32) PSS000211 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.4 [1.42, 1.48] age, sex, genotyping array, first 4 genotype PCs
PPM000346 PGS000120 (SCC10) PSS000211 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.3 [1.3, 1.34] age, sex, genotyping array, first 4 genotype PCs
PPM000345 PGS000118 (MEL29) PSS000211 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.2 [1.22, 1.36] age, sex, genotyping array, first 4 genotype PCs
PPM000344 PGS000119 (BCC32) PSS000207 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.32 [1.27, 1.36] AUROC: 0.58 [0.56, 0.58] age, sex, batch, PC1-4
PPM000343 PGS000120 (SCC10) PSS000207 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.34 [1.3, 1.38] AUROC: 0.58 [0.57, 0.6] age, sex, batch, PC1-4
PPM000342 PGS000118 (MEL29) PSS000207 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Skin cancer OR: 1.3 [1.26, 1.34] AUROC: 0.57 [0.56, 0.58] age, sex, batch, PC1-4
PPM000341 PGS000119 (BCC32) PSS000209 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Basal cell carcinoma OR: 1.65 [1.56, 1.75] AUROC: 0.64 [0.62, 0.66] age, sex, batch, PC1-4
PPM000340 PGS000120 (SCC10) PSS000208 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Squamous cell carcinoma OR: 1.4 [1.31, 1.5] AUROC: 0.59 [0.56, 0.61] age, sex, batch, PC1-4
PPM000339 PGS000118 (MEL29) PSS000206 PGP000055
Fritsche LG et al. (2019)
Reported Trait: Melanoma OR: 1.48 [1.41, 1.56] AUROC: 0.61 [0.59, 0.62] age, sex, batch, PC1-4
PPM000488 PGS000157 (cGRS_Melanoma) PSS000277 PGP000075
Shi Z et al. (2019)
Reported Trait: Melanoma Odds Ratio (OR; high vs. average risk groups): 1.72 [1.37, 2.16]
PPM000477 PGS000157 (cGRS_Melanoma) PSS000277 PGP000075
Shi Z et al. (2019)
Reported Trait: Melanoma Mean realative risk: 1.2 [1.14, 1.26]
Wilcoxon test (case vs. control) p-value: 5.99e-11
PPM000922 PGS000339 (PRS22_CM) PSS000464 PGP000106
Law MH et al. (2020)
Reported Trait: Cutaneous melanoma in multiplex melanoma families Difference of PRS (deltaPRS; unaffected melanoma family members vs. unrelated controls): 0.347 (0.104) PCs (1-10) *Sample overlap between the controls used in this analysis and score development
PPM000921 PGS000339 (PRS22_CM) PSS000463 PGP000106
Law MH et al. (2020)
Reported Trait: Cutaneous melanoma in multiplex melanoma families Difference of PRS (deltaPRS; melanoma family cases vs. unrelated controls): 0.505 (0.036) PCs (1-10) *Sample overlap between the controls used in this analysis and score development
PPM001085 PGS000400 (PRSWEB_PHECODE172_C3-SKIN_P_5e-08_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.342 [1.291, 1.395]
β: 0.294 (0.0197)
AUROC: 0.581 [0.57, 0.592] Nagelkerke's Pseudo-R²: 0.0201
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.2 [1.63, 2.98]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_C3-SKIN_P_5e-08_MGI_20200608
PPM001088 PGS000403 (PRSWEB_PHECODE172_C3-SKIN_LASSOSUM_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.359 [1.307, 1.413]
β: 0.307 (0.0199)
AUROC: 0.584 [0.573, 0.594] Nagelkerke's Pseudo-R²: 0.0219
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 1.65 [1.2, 2.27]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_C3-SKIN_LASSOSUM_MGI_20200608
PPM001091 PGS000406 (PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PT_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.392 [1.339, 1.447]
β: 0.331 (0.0199)
AUROC: 0.591 [0.581, 0.602] Nagelkerke's Pseudo-R²: 0.0249
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.51 [1.89, 3.34]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PT_MGI_20200608
PPM001095 PGS000410 (PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.399 [1.327, 1.476]
β: 0.336 (0.0272)
AUROC: 0.578 [0.562, 0.594] Nagelkerke's Pseudo-R²: 0.0239
Brier score: 0.0956
Odds Ratio (OR, top 1% vs. Rest): 2.65 [1.79, 3.93]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_PT_MGI_20200608
PPM001098 PGS000413 (PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.27 [1.199, 1.346]
β: 0.239 (0.0294)
AUROC: 0.568 [0.552, 0.584] Nagelkerke's Pseudo-R²: 0.0109
Brier score: 0.0964
Odds Ratio (OR, top 1% vs. Rest): 2.09 [1.35, 3.22]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PRS-CS_MGI_20200608
PPM001101 PGS000416 (PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.473 [1.394, 1.557]
β: 0.388 (0.0282)
AUROC: 0.598 [0.582, 0.613] Nagelkerke's Pseudo-R²: 0.0297
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.88 [1.96, 4.21]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_P_5e-08_MGI_20200608
PPM001103 PGS000418 (PRSWEB_PHECODE172.1_C43_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.473 [1.394, 1.557]
β: 0.388 (0.0282)
AUROC: 0.598 [0.582, 0.613] Nagelkerke's Pseudo-R²: 0.0297
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.88 [1.96, 4.21]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_PT_MGI_20200608
PPM001106 PGS000421 (PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.37, 1.541]
β: 0.374 (0.03)
AUROC: 0.6 [0.584, 0.616] Nagelkerke's Pseudo-R²: 0.0257
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.39 [1.58, 3.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_MGI_20200608
PPM001110 PGS000425 (PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.369, 1.542]
β: 0.374 (0.0304)
AUROC: 0.601 [0.585, 0.617] Nagelkerke's Pseudo-R²: 0.0255
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.7, 3.8]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_MGI_20200608
PPM001130 PGS000445 (PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.334 [1.264, 1.409]
β: 0.289 (0.0278)
AUROC: 0.571 [0.555, 0.587] Nagelkerke's Pseudo-R²: 0.0184
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.72, 3.74]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_P_5e-08_MGI_20200608
PPM001132 PGS000447 (PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.398 [1.322, 1.477]
β: 0.335 (0.0282)
AUROC: 0.591 [0.575, 0.607] Nagelkerke's Pseudo-R²: 0.0237
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.5 [1.68, 3.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_PT_MGI_20200608
PPM001135 PGS000450 (PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.079 [1.022, 1.139]
β: 0.0759 (0.0278)
AUROC: 0.504 [0.489, 0.52] Nagelkerke's Pseudo-R²: 0.00145
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.42 [0.882, 2.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_PT_MGI_20200608
PPM001138 PGS000453 (PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608) PSS000568 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.511 [1.47, 1.554]
β: 0.413 (0.0142)
AUROC: 0.611 [0.604, 0.619] Nagelkerke's Pseudo-R²: 0.0301
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.8 [2.33, 3.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_UKB_20200608
PPM001142 PGS000457 (PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608) PSS000568 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.535 [1.493, 1.579]
β: 0.429 (0.0144)
AUROC: 0.617 [0.609, 0.625] Nagelkerke's Pseudo-R²: 0.0322
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.11 [2.6, 3.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_UKB_20200608
PPM001145 PGS000460 (PRSWEB_PHECODE172.22_20001-1062_LASSOSUM_MGI_20200608) PSS000545 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.096 [1.025, 1.172]
β: 0.0917 (0.0344)
AUROC: 0.523 [0.503, 0.543] Nagelkerke's Pseudo-R²: 0.00155
Brier score: 0.0996
Odds Ratio (OR, top 1% vs. Rest): 1.56 [0.892, 2.74]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_20001-1062_LASSOSUM_MGI_20200608
PPM001148 PGS000463 (PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_MGI_20200608) PSS000545 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.448 [1.356, 1.546]
β: 0.37 (0.0335)
AUROC: 0.593 [0.573, 0.613] Nagelkerke's Pseudo-R²: 0.0268
Brier score: 0.0977
Odds Ratio (OR, top 1% vs. Rest): 3.74 [2.46, 5.68]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_MGI_20200608
PPM001151 PGS000466 (PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_UKB_20200608) PSS000569 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma β: 0.283 (0.0138)
OR: 1.327 [1.292, 1.364]
AUROC: 0.57 [0.562, 0.578] Nagelkerke's Pseudo-R²: 0.0146
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 1.75 [1.4, 2.18]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_UKB_20200608
PPM001154 PGS000469 (PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PRS-CS_MGI_20200608) PSS000547 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Carcinoma in situ of skin OR: 1.09 [1.001, 1.188]
β: 0.0865 (0.0437)
AUROC: 0.524 [0.499, 0.549] Nagelkerke's Pseudo-R²: 0.00141
Brier score: 0.0939
Odds Ratio (OR, top 1% vs. Rest): 1.48 [0.703, 3.1]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PRS-CS_MGI_20200608
PPM001083 PGS000398 (PRSWEB_PHECODE172_20001-1003_PRS-CS_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.042 [1.003, 1.082]
β: 0.0407 (0.0195)
AUROC: 0.51 [0.499, 0.521] Nagelkerke's Pseudo-R²: 0.00028
Brier score: 0.148
Odds Ratio (OR, top 1% vs. Rest): 1.7 [1.22, 2.38]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_20001-1003_PRS-CS_MGI_20200608
PPM001084 PGS000399 (PRSWEB_PHECODE172_20001-1003_PT_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.158 [1.116, 1.202]
β: 0.147 (0.0189)
AUROC: 0.513 [0.503, 0.523] Nagelkerke's Pseudo-R²: 0.00545
Brier score: 0.148
Odds Ratio (OR, top 1% vs. Rest): 1.56 [1.12, 2.16]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_20001-1003_PT_MGI_20200608
PPM001086 PGS000401 (PRSWEB_PHECODE172_C3-SKIN_PRS-CS_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.342 [1.291, 1.396]
β: 0.294 (0.0199)
AUROC: 0.581 [0.57, 0.591] Nagelkerke's Pseudo-R²: 0.0202
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.25 [1.67, 3.03]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_C3-SKIN_PRS-CS_MGI_20200608
PPM001087 PGS000402 (PRSWEB_PHECODE172_C3-SKIN_PT_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.366 [1.314, 1.421]
β: 0.312 (0.0198)
AUROC: 0.586 [0.576, 0.597] Nagelkerke's Pseudo-R²: 0.0224
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.23 [1.64, 3.03]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_C3-SKIN_PT_MGI_20200608
PPM001089 PGS000404 (PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_P_5e-08_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.369 [1.317, 1.422]
β: 0.314 (0.0196)
AUROC: 0.584 [0.574, 0.594] Nagelkerke's Pseudo-R²: 0.0226
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.3 [1.72, 3.09]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_P_5e-08_MGI_20200608
PPM001090 PGS000405 (PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PRS-CS_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.338 [1.287, 1.391]
β: 0.291 (0.0199)
AUROC: 0.58 [0.57, 0.591] Nagelkerke's Pseudo-R²: 0.0192
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.42 [1.81, 3.24]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_PRS-CS_MGI_20200608
PPM001092 PGS000407 (PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_LASSOSUM_MGI_20200608) PSS000548 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Skin cancer OR: 1.38 [1.328, 1.434]
β: 0.322 (0.0197)
AUROC: 0.586 [0.575, 0.597] Nagelkerke's Pseudo-R²: 0.0245
Brier score: 0.146
Odds Ratio (OR, top 1% vs. Rest): 2.26 [1.69, 3.03]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172_UKBB-SAIGE-HRC-X172_LASSOSUM_MGI_20200608
PPM001093 PGS000408 (PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.384 [1.311, 1.461]
β: 0.325 (0.0276)
AUROC: 0.576 [0.561, 0.593] Nagelkerke's Pseudo-R²: 0.0217
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.25 [1.48, 3.42]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_P_5e-08_MGI_20200608
PPM001096 PGS000411 (PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.378 [1.308, 1.451]
β: 0.32 (0.0265)
AUROC: 0.571 [0.555, 0.587] Nagelkerke's Pseudo-R²: 0.0222
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.0 [1.29, 3.09]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_LASSOSUM_MGI_20200608
PPM001099 PGS000414 (PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.44 [1.363, 1.522]
β: 0.365 (0.0283)
AUROC: 0.593 [0.576, 0.609] Nagelkerke's Pseudo-R²: 0.026
Brier score: 0.0954
Odds Ratio (OR, top 1% vs. Rest): 2.97 [2.02, 4.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_PT_MGI_20200608
PPM001100 PGS000415 (PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.391 [1.318, 1.467]
β: 0.33 (0.0272)
AUROC: 0.578 [0.562, 0.595] Nagelkerke's Pseudo-R²: 0.0227
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 2.34 [1.55, 3.53]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_LASSOSUM_MGI_20200608
PPM001102 PGS000417 (PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.228 [1.159, 1.3]
β: 0.205 (0.0294)
AUROC: 0.556 [0.541, 0.571] Nagelkerke's Pseudo-R²: 0.00812
Brier score: 0.0965
Odds Ratio (OR, top 1% vs. Rest): 1.88 [1.2, 2.95]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_PRS-CS_MGI_20200608
PPM001104 PGS000419 (PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.348 [1.279, 1.421]
β: 0.299 (0.0268)
AUROC: 0.565 [0.549, 0.583] Nagelkerke's Pseudo-R²: 0.0188
Brier score: 0.0959
Odds Ratio (OR, top 1% vs. Rest): 1.93 [1.24, 3.0]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C43_LASSOSUM_MGI_20200608
PPM001105 PGS000420 (PRSWEB_PHECODE172.1_D03_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.066 [1.007, 1.128]
β: 0.0639 (0.029)
AUROC: 0.516 [0.5, 0.533] Nagelkerke's Pseudo-R²: 0.00074
Brier score: 0.0969
Odds Ratio (OR, top 1% vs. Rest): 1.07 [0.603, 1.9]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_D03_PT_MGI_20200608
PPM001107 PGS000422 (PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608) PSS000567 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.539 [1.454, 1.629]
β: 0.431 (0.029)
AUROC: 0.615 [0.599, 0.63] Nagelkerke's Pseudo-R²: 0.0332
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.57 [1.75, 3.77]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_P_5e-08_UKB_20200608
PPM001108 PGS000423 (PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx β: 0.394 (0.0301)
OR: 1.484 [1.399, 1.574]
AUROC: 0.608 [0.592, 0.623] Nagelkerke's Pseudo-R²: 0.0289
Brier score: 0.0954
Odds Ratio (OR, top 1% vs. Rest): 2.93 [2.0, 4.3]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_MGI_20200608
PPM001109 PGS000424 (PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608) PSS000567 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.563 [1.475, 1.656]
β: 0.447 (0.0294)
AUROC: 0.619 [0.603, 0.634] Nagelkerke's Pseudo-R²: 0.035
Brier score: 0.0812
Odds Ratio (OR, top 1% vs. Rest): 3.12 [2.18, 4.47]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_GWAS-Catalog-r2019-05-03-X172.1_PT_UKB_20200608
PPM001111 PGS000426 (PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608) PSS000567 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.551 [1.463, 1.643]
β: 0.439 (0.0296)
AUROC: 0.62 [0.604, 0.635] Nagelkerke's Pseudo-R²: 0.0335
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.81 [1.93, 4.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_P_5e-08_UKB_20200608
PPM001112 PGS000427 (PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.453 [1.369, 1.542]
β: 0.374 (0.0304)
AUROC: 0.601 [0.585, 0.617] Nagelkerke's Pseudo-R²: 0.0255
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 2.54 [1.7, 3.8]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_MGI_20200608
PPM001113 PGS000428 (PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608) PSS000567 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.551 [1.463, 1.643]
β: 0.439 (0.0296)
AUROC: 0.62 [0.604, 0.635] Nagelkerke's Pseudo-R²: 0.0335
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.81 [1.93, 4.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_Melanoma-Ransohoff_PT_UKB_20200608
PPM001114 PGS000429 (PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.503 [1.422, 1.589]
β: 0.408 (0.0284)
AUROC: 0.606 [0.591, 0.622] Nagelkerke's Pseudo-R²: 0.0332
Brier score: 0.0951
Odds Ratio (OR, top 1% vs. Rest): 2.62 [1.77, 3.88]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_P_5e-08_MGI_20200608
PPM001116 PGS000431 (PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.486 [1.405, 1.571]
β: 0.396 (0.0285)
AUROC: 0.604 [0.587, 0.62] Nagelkerke's Pseudo-R²: 0.0312
Brier score: 0.0952
Odds Ratio (OR, top 1% vs. Rest): 2.97 [2.04, 4.34]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PT_MGI_20200608
PPM001117 PGS000432 (PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.391 [1.318, 1.467]
β: 0.33 (0.0273)
AUROC: 0.582 [0.566, 0.599] Nagelkerke's Pseudo-R²: 0.0228
Brier score: 0.0957
Odds Ratio (OR, top 1% vs. Rest): 1.99 [1.29, 3.07]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_LASSOSUM_MGI_20200608
PPM001131 PGS000446 (PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.291 [1.221, 1.366]
β: 0.256 (0.0286)
AUROC: 0.575 [0.559, 0.591] Nagelkerke's Pseudo-R²: 0.0139
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.42 [0.871, 2.33]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_PRS-CS_MGI_20200608
PPM001133 PGS000448 (PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.411 [1.335, 1.491]
β: 0.344 (0.0282)
AUROC: 0.587 [0.57, 0.604] Nagelkerke's Pseudo-R²: 0.0254
Brier score: 0.108
Odds Ratio (OR, top 1% vs. Rest): 2.93 [2.03, 4.25]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1061_LASSOSUM_MGI_20200608
PPM001134 PGS000449 (PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.093 [1.034, 1.155]
β: 0.0888 (0.0282)
AUROC: 0.525 [0.509, 0.54] Nagelkerke's Pseudo-R²: 0.00141
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 1.65 [1.04, 2.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_PRS-CS_MGI_20200608
PPM001136 PGS000451 (PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.144 [1.084, 1.208]
β: 0.135 (0.0278)
AUROC: 0.521 [0.506, 0.536] Nagelkerke's Pseudo-R²: 0.00396
Brier score: 0.109
Odds Ratio (OR, top 1% vs. Rest): 2.44 [1.65, 3.62]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_20001-1073_LASSOSUM_MGI_20200608
PPM001137 PGS000452 (PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.663 [1.57, 1.761]
β: 0.508 (0.0293)
AUROC: 0.632 [0.616, 0.647] Nagelkerke's Pseudo-R²: 0.0487
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.61 [2.53, 5.15]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_P_5e-08_MGI_20200608
PPM001139 PGS000454 (PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.661 [1.568, 1.759]
β: 0.507 (0.0293)
AUROC: 0.632 [0.616, 0.647] Nagelkerke's Pseudo-R²: 0.0489
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.79 [2.68, 5.35]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_PT_MGI_20200608
PPM001140 PGS000455 (PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608) PSS000568 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.511 [1.47, 1.554]
β: 0.413 (0.0142)
AUROC: 0.611 [0.604, 0.619] Nagelkerke's Pseudo-R²: 0.0301
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 2.8 [2.33, 3.36]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_BCC-Chahal_PT_UKB_20200608
PPM001141 PGS000456 (PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.633 [1.541, 1.729]
β: 0.49 (0.0293)
AUROC: 0.63 [0.615, 0.646] Nagelkerke's Pseudo-R²: 0.0456
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 3.95 [2.79, 5.58]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_P_5e-08_MGI_20200608
PPM001143 PGS000458 (PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608) PSS000544 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.634 [1.542, 1.732]
β: 0.491 (0.0296)
AUROC: 0.628 [0.612, 0.644] Nagelkerke's Pseudo-R²: 0.0457
Brier score: 0.106
Odds Ratio (OR, top 1% vs. Rest): 4.03 [2.86, 5.69]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_MGI_20200608
PPM001144 PGS000459 (PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608) PSS000568 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Basal cell carcinoma OR: 1.528 [1.485, 1.572]
β: 0.424 (0.0144)
AUROC: 0.615 [0.608, 0.623] Nagelkerke's Pseudo-R²: 0.0314
Brier score: 0.0813
Odds Ratio (OR, top 1% vs. Rest): 3.05 [2.55, 3.64]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.21_GWAS-Catalog-r2019-05-03-X172.21_PT_UKB_20200608
PPM001146 PGS000461 (PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_MGI_20200608) PSS000545 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.491 [1.395, 1.593]
β: 0.4 (0.0338)
AUROC: 0.599 [0.579, 0.618] Nagelkerke's Pseudo-R²: 0.0304
Brier score: 0.0974
Odds Ratio (OR, top 1% vs. Rest): 3.51 [2.29, 5.39]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_MGI_20200608
PPM001147 PGS000462 (PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_UKB_20200608) PSS000569 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.324 [1.288, 1.361]
β: 0.28 (0.014)
AUROC: 0.573 [0.564, 0.58] Nagelkerke's Pseudo-R²: 0.0141
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.13 [1.74, 2.61]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_P_5e-08_UKB_20200608
PPM001149 PGS000464 (PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_UKB_20200608) PSS000569 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.332 [1.296, 1.369]
β: 0.287 (0.014)
AUROC: 0.575 [0.567, 0.582] Nagelkerke's Pseudo-R²: 0.0147
Brier score: 0.082
Odds Ratio (OR, top 1% vs. Rest): 2.19 [1.79, 2.67]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_GWAS-Catalog-r2019-05-03-X172.22_PT_UKB_20200608
PPM001150 PGS000465 (PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_MGI_20200608) PSS000545 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.457 [1.365, 1.554]
β: 0.376 (0.033)
AUROC: 0.589 [0.57, 0.61] Nagelkerke's Pseudo-R²: 0.0282
Brier score: 0.0976
Odds Ratio (OR, top 1% vs. Rest): 4.54 [3.07, 6.71]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_cSCC-Chahal_P_5e-08_MGI_20200608
PPM001152 PGS000467 (PRSWEB_PHECODE172.22_cSCC-Chahal_PT_MGI_20200608) PSS000545 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.43 [1.341, 1.525]
β: 0.358 (0.0328)
AUROC: 0.583 [0.564, 0.603] Nagelkerke's Pseudo-R²: 0.0261
Brier score: 0.0978
Odds Ratio (OR, top 1% vs. Rest): 3.75 [2.49, 5.64]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_cSCC-Chahal_PT_MGI_20200608
PPM001153 PGS000468 (PRSWEB_PHECODE172.22_cSCC-Chahal_PT_UKB_20200608) PSS000569 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Squamous cell carcinoma OR: 1.334 [1.299, 1.371]
β: 0.288 (0.0138)
AUROC: 0.571 [0.563, 0.579] Nagelkerke's Pseudo-R²: 0.0151
Brier score: 0.0819
Odds Ratio (OR, top 1% vs. Rest): 1.93 [1.56, 2.39]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.22_cSCC-Chahal_PT_UKB_20200608
PPM001155 PGS000470 (PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PT_MGI_20200608) PSS000547 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Carcinoma in situ of skin OR: 1.308 [1.208, 1.417]
β: 0.269 (0.0407)
AUROC: 0.557 [0.531, 0.582] Nagelkerke's Pseudo-R²: 0.0154
Brier score: 0.093
Odds Ratio (OR, top 1% vs. Rest): 2.45 [1.34, 4.45]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_PT_MGI_20200608
PPM001156 PGS000471 (PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_LASSOSUM_MGI_20200608) PSS000547 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Carcinoma in situ of skin OR: 1.401 [1.297, 1.513]
β: 0.337 (0.0393)
AUROC: 0.569 [0.541, 0.595] Nagelkerke's Pseudo-R²: 0.0255
Brier score: 0.0923
Odds Ratio (OR, top 1% vs. Rest): 3.77 [2.24, 6.34]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.3_UKBB-SAIGE-HRC-X172.3_LASSOSUM_MGI_20200608
PPM001115 PGS000430 (PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.219 [1.151, 1.292]
β: 0.198 (0.0296)
AUROC: 0.555 [0.54, 0.573] Nagelkerke's Pseudo-R²: 0.00721
Brier score: 0.0965
Odds Ratio (OR, top 1% vs. Rest): 1.64 [1.01, 2.66]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_UKBB-SAIGE-HRC-X172.1_PRS-CS_MGI_20200608
PPM001094 PGS000409 (PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.192 [1.126, 1.263]
β: 0.176 (0.0292)
AUROC: 0.547 [0.531, 0.563] Nagelkerke's Pseudo-R²: 0.0061
Brier score: 0.0966
Odds Ratio (OR, top 1% vs. Rest): 1.94 [1.25, 3.02]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_20001-1059_PRS-CS_MGI_20200608
PPM001097 PGS000412 (PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608) PSS000543 PGP000118
Fritsche LG et al. (2020)
Reported Trait: Melanomas of skin, dx or hx OR: 1.414 [1.338, 1.495]
β: 0.347 (0.0282)
AUROC: 0.585 [0.569, 0.6] Nagelkerke's Pseudo-R²: 0.0236
Brier score: 0.0955
Odds Ratio (OR, top 1% vs. Rest): 3.26 [2.26, 4.7]
age, sex, batch PCs 1-4 Cancer PRSweb PheWAS Results: PRSWEB_PHECODE172.1_C3-MELANOMA-SKIN_P_5e-08_MGI_20200608

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000567 PheCode:172.1; ICD9:-; ICD10:C43.0, C43.1, C43.2, C43.3, C43.4, C43.5, C43.6, C43.7, C43.8, C43.9, D03.0, D03.1, D03.2, D03.3, D03.4, D03.5, D03.6, D03.7, D03.8, D03.9
[
  • 1,317 cases
  • , 13,165 controls
]
European UKB
PSS000568 PheCode:172.21; ICD9:173, 173.0, 173.1, 173.2, 173.3, 173.4, 173.5, 173.6, 173.7, 173.8, 173.9; ICD10:C44.0, C44.1, C44.2, C44.3, C44.4, C44.5, C44.6, C44.7, C44.8, C44.9
[
  • 5,450 cases
  • , 54,568 controls
]
European UKB
PSS000569 PheCode:172.22; ICD9:173, 173.0, 173.1, 173.2, 173.3, 173.4, 173.5, 173.6, 173.7, 173.8, 173.9; ICD10:C44.0, C44.1, C44.2, C44.3, C44.4, C44.5, C44.6, C44.7, C44.8, C44.9
[
  • 5,450 cases
  • , 54,568 controls
]
European UKB
PSS000463 Unaffected family members from families with increased melaona risk. Recruited families were ranked as low-, medium- or high-risk using a risk index (T) that factored in the number of confirmed cases of melanoma versus number of unaffected family members, ages and year of birth
[
  • 1,292 cases
  • , 1,774 controls
]
,
46.28 % Male samples
European Australia BATS, QFMP
PSS000464 Unaffected family members from families with increased melaona risk. Recruited families were ranked as low-, medium- or high-risk using a risk index (T) that factored in the number of confirmed cases of melanoma versus number of unaffected family members, ages and year of birth
[
  • 111 cases
  • , 1,774 controls
]
,
46.37 % Male samples
European Australia BATS, QFMP
PSS000206 Melanomas of skin : ICD9- 172.0,172.1,172.2,172.3,172.4,172.5,172.6,172.7,172.8,172.9
[
  • 1,279 cases
  • , 19,189 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000207 PheCode 172
[
  • 3,002 cases
  • , 17,466 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000208 Squamous cell carcinoma: ICD9-173.02,173.12,173.22,173.32,173.42,173.52,173.62,173.72,173.82,173.92
[
  • 563 cases
  • , 19,905 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000209 Basal cell carcinoma: ICD9-173.01,173.11,173.21,173.31,173.41,173.51,173.61,173.71,173.81,173.91
[
  • 884 cases
  • , 19,584 controls
]
,
46.9 % Male samples
Mean = 54.2 years
Sd = 15.9 years
European MGI
PSS000210 PheCode 172.11
[
  • 2,718 cases
  • , 27,180 controls
]
,
45.9 % Male samples
Mean = 57.7 years
Sd = 8.1 years
European White British Subset UKB
PSS000211 PheCode 172
[
  • 13,624 cases
  • , 136,233 controls
]
,
45.9 % Male samples
Mean = 57.7 years
Sd = 8.1 years
European White British Subset UKB
PSS000277 Primary tumor samples from TCGA
[
  • 450 cases
  • , 0 controls
]
Mean = 59.0 years
Sd = 16.0 years
European TCGA
PSS000277
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
PSS000543 PheCode:172.1; ICD9CM:172.0, 172.1, 172.2, 172.3, 172.4, 172.5, 172.6, 172.7, 172.8, 172.9, V10.82; ICD10CM:C43, C43.0, C43.1, C43.10, C43.11, C43.12, C43.2, C43.20, C43.21, C43.22, C43.3, C43.30, C43.31, C43.39, C43.4, C43.5, C43.51, C43.52, C43.59, C43.6, C43.60, C43.61, C43.62, C43.7, C43.70, C43.71, C43.72, C43.8, C43.9, D03, D03.0, D03.1, D03.10, D03.11, D03.12, D03.2, D03.20, D03.21, D03.22, D03.3, D03.30, D03.39, D03.4, D03.5, D03.51, D03.52, D03.59, D03.6, D03.60, D03.61, D03.62, D03.7, D03.70, D03.71, D03.72, D03.8, D03.9
[
  • 1,325 cases
  • , 10,649 controls
]
European MGI
PSS000544 PheCode:172.21; ICD9CM:173.01, 173.11, 173.21, 173.31, 173.41, 173.51, 173.61, 173.71, 173.81, 173.91; ICD10CM:C44.01, C44.111, C44.112, C44.119, C44.211, C44.212, C44.219, C44.310, C44.311, C44.319, C44.41, C44.510, C44.511, C44.519, C44.611, C44.612, C44.619, C44.711, C44.712, C44.719, C44.81, C44.91
[
  • 1,481 cases
  • , 9,841 controls
]
European MGI
PSS000545 PheCode:172.22; ICD9CM:173.02, 173.12, 173.22, 173.32, 173.42, 173.52, 173.62, 173.72, 173.82, 173.92; ICD10CM:C44.02, C44.121, C44.122, C44.129, C44.221, C44.222, C44.229, C44.320, C44.321, C44.329, C44.42, C44.520, C44.521, C44.529, C44.621, C44.622, C44.629, C44.721, C44.722, C44.729, C44.82, C44.92
[
  • 982 cases
  • , 7,491 controls
]
European MGI
PSS000547 PheCode:172.3; ICD9CM:232.0, 232.1, 232.2, 232.3, 232.4, 232.5, 232.6, 232.7, 232.8, 232.9; ICD10CM:D04, D04.0, D04.1, D04.10, D04.11, D04.12, D04.2, D04.20, D04.21, D04.22, D04.3, D04.30, D04.39, D04.4, D04.5, D04.6, D04.60, D04.61, D04.62, D04.7, D04.70, D04.71, D04.72, D04.8, D04.9
[
  • 585 cases
  • , 4,915 controls
]
European MGI
PSS000548 PheCode:172; ICD9CM:172.0, 172.1, 172.2, 172.3, 172.4, 172.5, 172.6, 172.7, 172.8, 172.9, 173.00, 173.01, 173.02, 173.09, 173.10, 173.11, 173.12, 173.19, 173.20, 173.21, 173.22, 173.29, 173.30, 173.31, 173.32, 173.39, 173.40, 173.41, 173.42, 173.49, 173.50, 173.51, 173.52, 173.59, 173.60, 173.61, 173.62, 173.69, 173.70, 173.71, 173.72, 173.79, 173.80, 173.81, 173.82, 173.89, 173.90, 173.91, 173.92, 173.99, 209.31, 209.32, 209.33, 209.34, 209.35, 209.36, 232.0, 232.1, 232.2, 232.3, 232.4, 232.5, 232.6, 232.7, 232.8, 232.9, V10.82, V10.83; ICD10CM:C43, C43.0, C43.1, C43.10, C43.11, C43.12, C43.2, C43.20, C43.21, C43.22, C43.3, C43.30, C43.31, C43.39, C43.4, C43.5, C43.51, C43.52, C43.59, C43.6, C43.60, C43.61, C43.62, C43.7, C43.70, C43.71, C43.72, C43.8, C43.9, C44.0, C44.00, C44.01, C44.02, C44.09, C44.1, C44.10, C44.101, C44.102, C44.109, C44.11, C44.111, C44.112, C44.119, C44.12, C44.121, C44.122, C44.129, C44.19, C44.191, C44.192, C44.199, C44.2, C44.20, C44.201, C44.202, C44.209, C44.21, C44.211, C44.212, C44.219, C44.22, C44.221, C44.222, C44.229, C44.29, C44.291, C44.292, C44.299, C44.30, C44.300, C44.301, C44.309, C44.31, C44.310, C44.311, C44.319, C44.320, C44.321, C44.329, C44.39, C44.390, C44.391, C44.399, C44.4, C44.40, C44.41, C44.42, C44.49, C44.500, C44.501, C44.509, C44.51, C44.510, C44.511, C44.519, C44.52, C44.520, C44.521, C44.529, C44.59, C44.590, C44.591, C44.599, C44.6, C44.60, C44.601, C44.602, C44.609, C44.61, C44.611, C44.612, C44.619, C44.62, C44.621, C44.622, C44.629, C44.69, C44.691, C44.692, C44.699, C44.7, C44.70, C44.701, C44.702, C44.709, C44.71, C44.711, C44.712, C44.719, C44.72, C44.721, C44.722, C44.729, C44.79, C44.791, C44.792, C44.799, C44.8, C44.80, C44.81, C44.82, C44.89, C44.9, C44.90, C44.91, C44.92, C44.99, C4A, C4A.0, C4A.1, C4A.10, C4A.11, C4A.12, C4A.2, C4A.20, C4A.21, C4A.22, C4A.3, C4A.30, C4A.31, C4A.39, C4A.4, C4A.5, C4A.51, C4A.52, C4A.59, C4A.6, C4A.60, C4A.61, C4A.62, C4A.7, C4A.70, C4A.71, C4A.72, C4A.8, C4A.9, D03, D03.0, D03.1, D03.10, D03.11, D03.12, D03.2, D03.20, D03.21, D03.22, D03.3, D03.30, D03.39, D03.4, D03.5, D03.51, D03.52, D03.59, D03.6, D03.60, D03.61, D03.62, D03.7, D03.70, D03.71, D03.72, D03.8, D03.9, D04, D04.0, D04.1, D04.10, D04.11, D04.12, D04.2, D04.20, D04.21, D04.22, D04.3, D04.30, D04.39, D04.4, D04.5, D04.6, D04.60, D04.61, D04.62, D04.7, D04.70, D04.71, D04.72, D04.8, D04.9
[
  • 3,557 cases
  • , 14,050 controls
]
European MGI
PSS000118 Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 25010
[
  • 6,782 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 years European GERA, UKB