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: rs180177161
rs180177161
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018