rs749714198, CDKN2A

N. diseases: 3
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.
Hereditary Melanoma
CUI: C1512419
Disease: Hereditary Melanoma
50 0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06 0.700 1.000 12 1994 2016
MELANOMA-PANCREATIC CANCER SYNDROME
CUI: C1838547
Disease: MELANOMA-PANCREATIC CANCER SYNDROME
9 0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.200 9 21971100 missense variant G/A snv 8.6E-06 7.0E-06 0.700 0