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: 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: rs606231409
rs606231409
3 0.925 0.160 X 8732036 start lost T/A;C snv 0.700 1.000 2 2005 2016
dbSNP: rs1555893221
rs1555893221
1 1.000 0.160 X 8554039 stop gained G/A snv 0.700 1.000 6 1993 2017