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: rs121913494
rs121913494
7 0.827 0.240 20 58909541 missense variant A/G;T snv 0.010 1.000 1 2019 2019