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: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs5030728
rs5030728
7 0.807 0.160 9 117712004 intron variant G/A;T snv 0.23 0.010 1.000 1 2014 2014