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: rs1114167433
rs1114167433
2 0.925 0.200 22 26607934 missense variant G/T snv 0.020 1.000 2 2011 2013
dbSNP: rs1114167432
rs1114167432
1 1.000 0.040 22 26599492 stop lost A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs200090198
rs200090198
1 1.000 0.040 16 2326214 missense variant G/A;C;T snv 7.2E-05; 2.5E-04 0.010 1.000 1 2014 2014
dbSNP: rs201955122
rs201955122
1 1.000 0.040 16 2279097 missense variant C/T snv 1.2E-04 7.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs748819386
rs748819386
1 1.000 0.040 16 2295596 missense variant G/A snv 1.2E-05 3.5E-05 0.010 1.000 1 2014 2014