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: rs13017697
rs13017697
1 1.000 0.080 2 144399748 missense variant G/A;T snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs34961586
rs34961586
1 1.000 0.080 2 144403925 synonymous variant C/G;T snv 5.8E-04 0.010 1.000 1 2014 2014