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: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2010 2010
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.020 1.000 2 2009 2010
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.020 1.000 2 2009 2010
dbSNP: rs2234650
rs2234650
2 0.925 0.080 2 102141867 5 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs230534
rs230534
3 0.882 0.120 4 102527884 intron variant T/C snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs4648133
rs4648133
1 1.000 0.040 4 102615256 intron variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs7665090
rs7665090
6 0.807 0.280 4 102630446 downstream gene variant A/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2016 2016
dbSNP: rs3025058
rs3025058
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs11085725
rs11085725
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2016 2016
dbSNP: rs11191865
rs11191865
3 0.925 0.160 10 103913084 intron variant G/A snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs2841277
rs2841277
3 0.882 0.120 14 104924668 upstream gene variant C/T snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs802791
rs802791
4 0.851 0.160 6 106121395 intron variant T/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs4134466
rs4134466
1 1.000 0.040 6 106129493 intron variant A/G snv 0.70 0.700 1.000 1 2017 2017
dbSNP: rs9373839
rs9373839
3 0.882 0.080 6 106207742 intron variant T/C snv 0.15 0.700 1.000 1 2014 2014
dbSNP: rs3827644
rs3827644
2 0.925 0.080 6 106237320 intron variant G/C snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs633724
rs633724
1 1.000 0.040 6 106286165 intron variant C/T snv 0.42 0.700 1.000 1 2019 2019
dbSNP: rs374039502
rs374039502
4 0.925 0.160 13 108308037 3 prime UTR variant T/A snv 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs7934606
rs7934606
2 1.000 0.040 11 1100037 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs10178332
rs10178332
2 0.925 0.120 2 11268891 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs11538960
rs11538960
1 1.000 0.040 1 112701565 missense variant C/T snv 4.2E-04 5.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs11102522
rs11102522
1 1.000 0.040 1 112708266 intron variant T/C snv 0.19 0.010 1.000 1 2016 2016