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: rs1057519695
rs1057519695
0.641 0.520 1 114713907 missense variant TT/CA;CC mnv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.030 1.000 3 2015 2016