rs104894098, CDKN2A

N. diseases: 4
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
CUI: C1835044
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
15 0.851 0.200 9 21970982 missense variant A/T snv 0.800 1.000 0 1994 2009
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
50 0.851 0.200 9 21970982 missense variant A/T snv 0.710 1.000 6 1995 2013
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
9 0.851 0.200 9 21970982 missense variant A/T snv 0.700 1.000 12 1994 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.851 0.200 9 21970982 missense variant A/T snv 0.700 1.000 9 1994 2013