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: rs121913395
rs121913395
1.000 0.040 3 41224573 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma
0.700 1.000 1 2014 2014