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: rs121913375
rs121913375
0.851 0.240 7 140753339 missense variant G/A;C snv
CUI: C0025202
Disease: melanoma
melanoma
0.710 1.000 1 2014 2018