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: rs9984417
rs9984417
2 0.925 0.040 21 22474790 intergenic variant A/T snv 0.52 0.700 1.000 1 2019 2019
dbSNP: rs9982623
rs9982623
2 0.925 0.040 21 46271302 intron variant C/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs9979250
rs9979250
2 0.925 0.040 21 38911809 intron variant C/T snv 3.1E-02 0.700 1.000 1 2013 2013
dbSNP: rs992670
rs992670
C5
3 0.882 0.120 9 121019492 intron variant G/A snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs953038635
rs953038635
51 0.590 0.800 6 159692720 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs9446777
rs9446777
1 1.000 0.040 6 72871328 intron variant A/G snv 9.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7873784
rs7873784
11 0.752 0.440 9 117716658 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs7762544
rs7762544
3 0.882 0.040 6 41411577 intergenic variant G/A snv 0.81 0.800 1.000 1 2013 2013
dbSNP: rs77490164
rs77490164
2 0.925 0.040 6 124238586 intron variant C/T snv 4.4E-02 0.700 1.000 1 2013 2013
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.030 1.000 3 2013 2017
dbSNP: rs7567687
rs7567687
2 0.925 0.040 2 129276753 upstream gene variant C/T snv 0.43 0.700 1.000 1 2013 2013
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs733048
rs733048
2 0.925 0.040 4 13241173 intergenic variant G/A snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs729876
rs729876
2 0.925 0.040 16 13294921 intron variant T/C snv 0.16 0.700 1.000 1 2019 2019
dbSNP: rs7086701
rs7086701
2 0.925 0.040 10 10298081 intergenic variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2010 2010
dbSNP: rs6885116
rs6885116
2 0.925 0.040 5 168216540 intron variant A/G snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs6815464
rs6815464
2 0.925 0.120 4 1316113 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6802315
rs6802315
2 0.925 0.040 3 158796571 intron variant T/A snv 0.59 0.700 1.000 1 2013 2013
dbSNP: rs6785049
rs6785049
4 0.882 0.080 3 119814886 intron variant G/A;T snv 0.46 0.010 1.000 1 2012 2012
dbSNP: rs6681231
rs6681231
5 0.882 0.120 1 186690727 intergenic variant G/C snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.020 0.500 2 2004 2010