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: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.800 1.000 3 2011 2018
dbSNP: rs10883437
rs10883437
3 1.000 0.040 10 100035604 regulatory region variant T/A;G snv 0.43 0.800 1.000 1 2011 2011
dbSNP: rs17801127
rs17801127
2 2 149707970 intron variant C/T snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 1 2011 2011
dbSNP: rs4949718
rs4949718
3 1 76433779 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.800 1.000 1 2011 2011
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.700 1.000 2 2011 2019
dbSNP: rs12483959
rs12483959
4 1.000 22 43930116 intron variant G/A;C;T snv 0.700 1.000 2 2011 2019
dbSNP: rs10001545
rs10001545
3 4 87254878 intergenic variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1047891
rs1047891
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2018 2018
dbSNP: rs10787429
rs10787429
2 10 112189906 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11124554
rs11124554
2 2 36922355 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs111532669
rs111532669
2 9 95446682 3 prime UTR variant C/T snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11597390
rs11597390
4 10 100101678 downstream gene variant G/A snv 0.29 0.700 1.000 1 2008 2008
dbSNP: rs11878604
rs11878604
5 19 40827379 intron variant T/C snv 0.14 0.700 1.000 1 2018 2018
dbSNP: rs11976006
rs11976006
3 1.000 0.040 7 28691895 intron variant G/A snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs12231737
rs12231737
5 0.925 0.120 12 112136812 intron variant C/T snv 5.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs12500824
rs12500824
3 1.000 0.040 4 76495474 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12748152
rs12748152
8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs13077101
rs13077101
4 3 120706484 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs13247499
rs13247499
2 7 28139639 intron variant C/A snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs13395911
rs13395911
3 2 232655544 intron variant A/T snv 0.59 0.700 1.000 1 2018 2018
dbSNP: rs144104656
rs144104656
3 1.000 0.120 2 118661291 regulatory region variant A/G snv 1.1E-03 0.700 1.000 1 2017 2017
dbSNP: rs144983009
rs144983009
2 5 56792072 intergenic variant C/T snv 5.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs147481775
rs147481775
3 1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03 0.700 1.000 1 2017 2017