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: rs137852515
rs137852515
1 0.925 0.160 X 8536852 missense variant C/T snv 0.800 1.000 15 1993 2014
dbSNP: rs137852517
rs137852517
1 1.000 0.160 X 8568252 missense variant G/A snv 2.9E-04 3.7E-04 0.800 1.000 15 1993 2014
dbSNP: rs1394625082
rs1394625082
1 1.000 0.160 X 8597061 missense variant A/G snv 0.700 1.000 15 1993 2014
dbSNP: rs140812865
rs140812865
1 1.000 0.160 X 8570650 missense variant T/C snv 1.9E-04 6.1E-04 0.700 1.000 15 1993 2014
dbSNP: rs144586521
rs144586521
1 1.000 0.160 X 8536777 stop gained C/A;T snv 5.7E-05 0.700 1.000 15 1993 2014
dbSNP: rs1170543613
rs1170543613
1 1.000 0.160 X 8535722 missense variant A/T snv 5.5E-06 0.700 0
dbSNP: rs137900287
rs137900287
1 1.000 0.160 X 8535674 missense variant C/A snv 2.2E-03 2.6E-03 0.700 0
dbSNP: rs199771303
rs199771303
1 1.000 0.160 X 8533023 missense variant T/C snv 2.8E-04 3.7E-04 0.700 0