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: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2012 2012
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.020 1.000 2 2012 2017
dbSNP: rs281875214
rs281875214
7 0.790 0.160 17 80183976 missense variant A/C snv 0.010 1.000 1 2019 2019
dbSNP: rs2066808
rs2066808
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.020 1.000 2 2013 2019
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2009 2011
dbSNP: rs11171806
rs11171806
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs13199524
rs13199524
9 0.807 0.240 6 32098988 intron variant C/T snv 8.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs281875215
rs281875215
6 0.807 0.160 17 80182790 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4921482
rs4921482
6 0.807 0.120 5 159337470 intron variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs74817271
rs74817271
6 0.807 0.120 5 151090412 intron variant G/A snv 5.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs1347671835
rs1347671835
5 0.827 0.160 16 88639888 missense variant C/A;G snv 4.3E-06 0.010 1.000 1 2019 2019
dbSNP: rs27044
rs27044
5 0.827 0.240 5 96783148 missense variant G/C snv 0.69 0.71 0.010 1.000 1 2016 2016
dbSNP: rs4085613
rs4085613
5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.030 0.667 3 2010 2014
dbSNP: rs12191877
rs12191877
7 0.851 0.120 6 31285148 intron variant C/T snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs2248374
rs2248374
4 0.851 0.120 5 96900192 splice region variant A/G snv 0.55 0.54 0.010 1.000 1 2016 2016
dbSNP: rs13017599
rs13017599
3 0.882 0.160 2 60937196 non coding transcript exon variant G/A snv 0.25 0.810 1.000 3 2012 2015
dbSNP: rs702873
rs702873
3 0.882 0.120 2 60854407 intron variant C/T snv 0.35 0.810 1.000 1 2012 2012
dbSNP: rs10888503
rs10888503
2 0.925 0.080 1 152621073 downstream gene variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs12044149
rs12044149
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs12189871
rs12189871
2 0.925 0.080 6 31284147 intron variant C/T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs12883343
rs12883343
2 0.925 0.080 14 35383268 downstream gene variant C/G;T snv 0.47 0.010 1.000 1 2019 2019