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: rs121913254
rs121913254
0.658 0.440 1 114713909 stop gained G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma
0.780 1.000 13 1989 2016