Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918488
rs121918488
7 0.790 0.120 10 121517379 missense variant A/C;G;T snv 0.800 1.000 1 2000 2000