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: rs1998303
rs1998303
3 9 82800066 intergenic variant A/G snv 0.37 0.700 1.000 1 2007 2007
dbSNP: rs11597390
rs11597390
4 10 100101678 downstream gene variant G/A snv 0.29 0.700 1.000 1 2008 2008
dbSNP: rs2281135
rs2281135
10 0.851 0.160 22 43936690 intron variant G/A snv 0.19 0.700 1.000 1 2008 2008
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs3782886
rs3782886
22 0.724 0.480 12 111672685 synonymous variant T/C snv 1.9E-02 5.9E-03 0.700 1.000 1 2010 2010
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: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 1 2011 2011
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: rs13077101
rs13077101
4 3 120706484 intron variant T/C snv 0.700 1.000 1 2012 2012
dbSNP: rs1583686
rs1583686
3 5 85922051 intergenic variant T/C snv 0.79 0.700 1.000 1 2012 2012
dbSNP: rs16840760
rs16840760
4 2 204118831 intergenic variant T/C snv 3.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs2078087
rs2078087
4 1 183389270 intron variant C/T snv 0.16 0.700 1.000 1 2012 2012
dbSNP: rs892295
rs892295
4 3 355870 intron variant A/G snv 0.87 0.700 1.000 1 2012 2012
dbSNP: rs9937036
rs9937036
3 16 16636871 intron variant T/A;C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs17801127
rs17801127
2 2 149707970 intron variant C/T snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs4949718
rs4949718
3 1 76433779 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.700 1.000 1 2016 2016
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: 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: rs147481775
rs147481775
3 1.000 0.120 22 31829377 intron variant C/A snv 6.6E-03 0.700 1.000 1 2017 2017
dbSNP: rs149940960
rs149940960
3 1.000 0.120 2 11641492 3 prime UTR variant T/C snv 1.0E-02 0.700 1.000 1 2017 2017
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs34531324
rs34531324
3 1.000 0.120 5 174435441 intron variant A/T snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs41307935
rs41307935
3 1.000 0.120 1 26854576 3 prime UTR variant C/T snv 6.1E-02 0.700 1.000 1 2017 2017
dbSNP: rs4896310
rs4896310
3 1.000 0.120 6 138018697 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017