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: rs281875212
rs281875212
2 0.925 0.040 17 80183987 missense variant G/A;C snv 0.800 1.000 5 2012 2016
dbSNP: rs281875213
rs281875213
2 0.925 0.040 17 80183988 missense variant A/G snv 0.800 1.000 5 2012 2016
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.800 1.000 5 2012 2016
dbSNP: rs146214639
rs146214639
1 1.000 17 80184012 missense variant T/G snv 1.1E-03 1.0E-03 0.700 1.000 5 2012 2016
dbSNP: rs200731780
rs200731780
1 1.000 17 80184015 missense variant G/A snv 1.2E-04 3.5E-05 0.700 1.000 5 2012 2016
dbSNP: rs200790561
rs200790561
1 1.000 17 80184152 missense variant G/A snv 4.7E-04 5.5E-04 0.700 1.000 5 2012 2016
dbSNP: rs201285077
rs201285077
3 0.882 0.040 17 80198545 missense variant C/G;T snv 4.0E-06; 2.3E-04 3.1E-04 0.700 1.000 5 2012 2016
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.700 1.000 5 2012 2016
dbSNP: rs574982768
rs574982768
1 1.000 17 80184209 missense variant G/A snv 5.2E-05 4.2E-05 0.700 1.000 5 2012 2016
dbSNP: rs762364495
rs762364495
1 1.000 17 80192521 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 5 2012 2016
dbSNP: rs777305616
rs777305616
1 1.000 17 80184014 missense variant C/A;T snv 9.4E-06; 2.8E-05 0.700 1.000 5 2012 2016
dbSNP: rs375624435
rs375624435
1 1.000 17 80181643 missense variant C/A;T snv 6.8E-06; 1.6E-04 0.700 0
dbSNP: rs587777763
rs587777763
1 1.000 17 80182795 splice region variant G/A snv 0.700 0
dbSNP: rs11652075
rs11652075
3 0.882 0.040 17 80205094 missense variant C/T snv 0.41 0.40 0.010 1.000 1 2013 2013