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: rs114202595
rs114202595
4 0.882 0.120 7 127614533 missense variant G/A;T snv 1.2E-04; 9.1E-06 0.850 1.000 7 2001 2013
dbSNP: rs2233580
rs2233580
5 0.882 0.080 7 127613496 missense variant C/T snv 8.2E-03 2.1E-03 0.740 0.833 6 2013 2019
dbSNP: rs712701
rs712701
1 1.000 0.080 7 127611134 missense variant T/G snv 0.73 0.75 0.010 < 0.001 1 2016 2016