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: rs121913400
rs121913400
4 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.810 1.000 2 2000 2016
dbSNP: rs121913228
rs121913228
2 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 2 2000 2016