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: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2115386
rs2115386
2 0.925 0.160 19 7196554 intron variant C/T snv 0.48 0.010 1.000 1 2016 2016