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: rs146639652
rs146639652
5 0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019