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: rs104893941
rs104893941
9 0.776 0.200 5 179836445 missense variant C/T snv 9.8E-04 1.3E-03 0.800 1.000 13 2002 2015
dbSNP: rs776749939
rs776749939
2 0.925 5 179833777 missense variant C/T snv 6.0E-05 1.4E-05 0.800 1.000 4 2011 2015
dbSNP: rs1225746517
rs1225746517
1 1.000 5 179825166 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 4 2011 2015
dbSNP: rs140226523
rs140226523
1 1.000 5 179833238 missense variant C/T snv 2.8E-03 9.2E-03 0.700 1.000 4 2011 2015
dbSNP: rs143511494
rs143511494
3 0.882 0.040 5 179836501 missense variant G/A snv 4.0E-05 6.3E-05 0.700 1.000 4 2011 2015
dbSNP: rs143956614
rs143956614
1 1.000 5 179833725 missense variant T/C snv 4.9E-04 2.2E-03 0.700 1.000 4 2011 2015
dbSNP: rs145056421
rs145056421
2 0.925 0.080 5 179824013 missense variant G/A snv 2.9E-04 2.9E-04 0.700 1.000 4 2011 2015
dbSNP: rs148294622
rs148294622
1 1.000 5 179833603 missense variant A/G snv 4.0E-05 4.9E-05 0.700 1.000 4 2011 2015
dbSNP: rs151191977
rs151191977
1 1.000 5 179825155 missense variant C/T snv 7.6E-05 4.9E-05 0.700 1.000 4 2011 2015
dbSNP: rs201263163
rs201263163
1 1.000 5 179824284 missense variant C/G;T snv 4.0E-06; 2.0E-05 0.700 1.000 4 2011 2015
dbSNP: rs771903158
rs771903158
1 1.000 5 179823875 missense variant C/T snv 2.8E-05 1.4E-05 0.700 1.000 4 2011 2015
dbSNP: rs148366738
rs148366738
1 1.000 5 179822992 missense variant C/G;T snv 8.0E-06; 2.8E-05 0.700 0
dbSNP: rs181263868
rs181263868
2 0.925 0.080 5 179823020 missense variant G/A snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs753212399
rs753212399
1 1.000 5 179823941 missense variant G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs757212984
rs757212984
3 0.882 0.040 5 179836543 stop gained G/A;T snv 3.2E-05; 4.0E-06 0.700 0
dbSNP: rs765200636
rs765200636
1 1.000 5 179825148 missense variant T/C snv 8.0E-06 0.700 0
dbSNP: rs770118706
rs770118706
1 1.000 5 179836558 missense variant A/C snv 4.0E-06 0.700 0
dbSNP: rs772122047
rs772122047
1 1.000 5 179833759 missense variant C/A;T snv 2.4E-05 0.700 0
dbSNP: rs772889843
rs772889843
1 1.000 5 179833660 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs774986849
rs774986849
1 1.000 5 179833049 missense variant G/A snv 1.2E-05 3.5E-05 0.700 0