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: rs1055368753
rs1055368753
2 0.925 0.120 17 43092010 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs41293459
rs41293459
12 0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs55770810
rs55770810
10 0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs797045175
rs797045175
3 0.882 0.120 17 43095919 splice acceptor variant ACAC/- delins 0.700 1.000 1 2015 2015
dbSNP: rs11571707
rs11571707
7 0.851 0.200 13 32356461 missense variant T/C snv 1.9E-02 8.5E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs80358638
rs80358638
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs80359065
rs80359065
5 0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04 0.010 1.000 1 2003 2003
dbSNP: rs80359130
rs80359130
5 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs80359183
rs80359183
4 0.882 0.120 13 32380096 stop gained T/A;C snv 0.010 1.000 1 2003 2003
dbSNP: rs761278503
rs761278503
2 0.925 0.120 17 61683780 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs200755477
rs200755477
3 0.925 0.120 22 43528870 missense variant G/A snv 1.2E-04 1.0E-04 0.010 1.000 1 2019 2019
dbSNP: rs147105770
rs147105770
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs397509403
rs397509403
4 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs574034197
rs574034197
2 0.925 0.120 16 89746848 missense variant T/C;G snv 8.7E-05 0.800 1.000 17 1997 2015
dbSNP: rs753063086
rs753063086
2 0.925 0.120 16 89749806 missense variant G/A;T snv 2.0E-05; 1.2E-05 0.800 1.000 17 1997 2017
dbSNP: rs148473140
rs148473140
2 0.925 0.120 16 89791459 missense variant G/A snv 8.0E-06 2.1E-05 0.800 1.000 16 1997 2016
dbSNP: rs149277003
rs149277003
2 0.925 0.120 16 89746890 missense variant T/C snv 2.5E-05 5.6E-05 0.800 1.000 14 1997 2012
dbSNP: rs780825099
rs780825099
2 0.925 0.120 16 89765062 missense variant T/G snv 1.2E-05 7.0E-06 0.800 1.000 13 1997 2018
dbSNP: rs1429943036
rs1429943036
1 1.000 0.120 16 89749805 missense variant C/A;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs374030577
rs374030577
1 1.000 0.120 16 89767215 missense variant A/C;T snv 4.0E-06 0.700 1.000 9 1997 2008
dbSNP: rs76275444
rs76275444
1 1.000 0.120 16 89816592 missense variant G/A;C snv 5.0E-03 0.700 1.000 9 1997 2008
dbSNP: rs755546887
rs755546887
2 0.925 0.120 16 89761950 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 7 2005 2016
dbSNP: rs759877008
rs759877008
2 0.925 0.120 16 89805275 splice region variant C/A;T snv 1.6E-05 0.700 1.000 7 1999 2018
dbSNP: rs755922289
rs755922289
2 0.925 0.120 16 89761949 missense variant C/A;T snv 5.2E-05 0.700 1.000 6 2000 2015
dbSNP: rs761341952
rs761341952
2 0.925 0.120 16 89816551 stop gained C/T snv 1.2E-04 4.2E-05 0.700 1.000 6 1997 2014