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: rs1178421926
rs1178421926
1 1.000 22 50526695 missense variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs749827433
rs749827433
2 0.925 22 50529292 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2014 2014