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: rs181985043
rs181985043
8 0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2016 2016