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: rs138350727
rs138350727
2 1.000 0.080 3 193626153 missense variant G/A;T snv 3.2E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs11258194
rs11258194
9 0.776 0.160 10 13110400 missense variant T/A snv 4.4E-02 6.0E-02 0.010 1.000 1 2006 2006