Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913492
rs121913492
0.790 0.160 9 77794572 missense variant T/A;C;G snv
CUI: C0025202
Disease: melanoma
melanoma
0.740 1.000 9 1989 2018