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: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.870 1.000 10 2011 2019
dbSNP: rs11172113
rs11172113
10 0.882 0.080 12 57133500 intron variant T/C snv 0.42 0.850 1.000 9 2011 2019
dbSNP: rs2651899
rs2651899
5 0.882 0.040 1 3167148 intron variant T/A;C snv 0.880 1.000 9 2011 2020
dbSNP: rs1835740
rs1835740
5 0.882 0.040 8 97154685 intergenic variant T/C snv 0.75 0.860 1.000 6 2010 2018
dbSNP: rs12134493
rs12134493
4 0.925 0.040 1 115135325 TF binding site variant C/A snv 9.2E-02 0.830 0.800 5 2013 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.050 1.000 5 2003 2018
dbSNP: rs4379368
rs4379368
3 0.925 0.040 7 40426601 intron variant C/T snv 0.12 0.830 1.000 4 2013 2019
dbSNP: rs9349379
rs9349379
19 0.732 0.200 6 12903725 intron variant A/G snv 0.32 0.800 1.000 4 2012 2016
dbSNP: rs10456100
rs10456100
2 1.000 0.040 6 39215694 intron variant C/T snv 0.20 0.800 1.000 3 2013 2016
dbSNP: rs10504861
rs10504861
3 0.925 0.040 8 88535703 intron variant C/T snv 0.23 0.720 0.667 3 2013 2017
dbSNP: rs10915437
rs10915437
2 1.000 0.040 1 4122946 intergenic variant A/G snv 0.29 0.820 0.667 3 2013 2017
dbSNP: rs2078371
rs2078371
2 1.000 0.040 1 115134562 regulatory region variant T/C snv 0.14 0.720 1.000 3 2013 2018
dbSNP: rs6478241
rs6478241
3 0.925 0.040 9 116490350 intron variant A/G;T snv 0.800 1.000 3 2012 2016
dbSNP: rs867770797
rs867770797
8 0.851 0.200 4 147519875 missense variant G/A snv 0.030 1.000 3 2001 2011
dbSNP: rs11624776
rs11624776
3 14 93129246 regulatory region variant A/C;T snv 0.700 1.000 2 2016 2016
dbSNP: rs13208321
rs13208321
1 6 96412478 intron variant A/G;T snv 0.020 1.000 2 2015 2017
dbSNP: rs1799732
rs1799732
11 0.790 0.160 11 113475529 intron variant -/G delins 0.020 0.500 2 2013 2015
dbSNP: rs202206511
rs202206511
1 1 156486509 intron variant -/T delins 0.700 1.000 2 2012 2013
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.020 1.000 2 2015 2017
dbSNP: rs2195450
rs2195450
3 0.925 0.040 5 153491449 intron variant G/A snv 0.17 0.020 1.000 2 2015 2018
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2010 2017
dbSNP: rs2506142
rs2506142
1 10 33179196 3 prime UTR variant A/G snv 0.21 0.710 1.000 2 2016 2018
dbSNP: rs3790455
rs3790455
1 1 156486509 intron variant C/T snv 0.54 0.800 1.000 2 2012 2013
dbSNP: rs3810651
rs3810651
4 0.925 0.080 X 152652814 missense variant A/C;T snv 0.020 1.000 2 2013 2018
dbSNP: rs4910165
rs4910165
2 11 10652497 intron variant C/G snv 0.78 0.700 1.000 2 2016 2016