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: rs11591147
rs11591147
4 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.750 1.000 1 2007 2018