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: rs11142387
rs11142387
7 9 70383416 downstream gene variant A/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs11164835
rs11164835
2 1 92913536 intron variant G/A snv 0.35 0.700 1.000 1 2010 2010
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11740562
rs11740562
2 5 157515277 intron variant A/G snv 7.1E-02 0.800 1.000 1 2010 2010
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs11789407
rs11789407
2 9 118597268 intergenic variant C/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs120074125
rs120074125
7 0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918805
rs121918805
4 0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2007 2007
dbSNP: rs12201676
rs12201676
4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.800 1.000 1 2010 2010
dbSNP: rs1224426272
rs1224426272
CIT
6 0.925 0.040 12 119869138 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs12282742
rs12282742
2 11 18244252 intron variant C/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs12305135
rs12305135
2 1.000 0.080 12 130150660 non coding transcript exon variant T/C snv 6.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs12527359
rs12527359
2 6 89018502 intergenic variant T/A snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12745968
rs12745968
2 1 92936280 intron variant A/G snv 0.36 0.800 1.000 1 2010 2010
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs144851946
rs144851946
1 1 156138701 missense variant G/A;T snv 1.4E-04; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs165599
rs165599
27 0.677 0.280 22 19969258 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2010 2010
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs17069122
rs17069122
2 6 108002555 downstream gene variant G/A snv 1.9E-02 0.800 1.000 1 2010 2010
dbSNP: rs17075286
rs17075286
2 3 43189231 intergenic variant C/G snv 5.9E-02 0.800 1.000 1 2011 2011
dbSNP: rs17645023
rs17645023
3 1.000 0.040 17 66920916 intergenic variant A/T snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs17693963
rs17693963
5 0.882 0.040 6 27742386 upstream gene variant A/C;G snv 0.700 1.000 1 2014 2014