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: rs137853240
rs137853240
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.800 0.917 12 2000 2011
dbSNP: rs1387153
rs1387153
10 0.807 0.200 11 92940662 downstream gene variant C/G;T snv 0.880 1.000 12 2009 2019
dbSNP: rs2237897
rs2237897
6 0.882 0.200 11 2837316 intron variant C/T snv 8.1E-02 0.880 1.000 11 2008 2019
dbSNP: rs4430796
rs4430796
14 0.790 0.280 17 37738049 intron variant A/G snv 0.52 0.870 1.000 11 2009 2019
dbSNP: rs11196218
rs11196218
2 0.925 0.160 10 113080735 intron variant G/A snv 0.25 0.100 0.700 10 2007 2015
dbSNP: rs2144908
rs2144908
5 0.851 0.120 20 44357077 intron variant G/A snv 0.18 0.100 1.000 10 2006 2019
dbSNP: rs231362
rs231362
1 1.000 0.080 11 2670241 non coding transcript exon variant A/G snv 0.62 0.840 1.000 10 2010 2019
dbSNP: rs3802177
rs3802177
5 1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24 0.820 1.000 10 2008 2019
dbSNP: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.870 0.900 10 2006 2020
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.090 1.000 9 2008 2017
dbSNP: rs1884614
rs1884614
5 0.882 0.080 20 44351879 non coding transcript exon variant C/T snv 0.18 0.090 0.889 9 2004 2016
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2000 2017
dbSNP: rs4607103
rs4607103
4 0.882 0.120 3 64726228 intron variant C/T snv 0.28 0.840 1.000 9 2008 2019
dbSNP: rs7612463
rs7612463
3 0.925 0.080 3 23294959 intron variant C/A;G snv 0.840 0.889 9 2010 2018
dbSNP: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.090 1.000 9 2011 2015
dbSNP: rs11708067
rs11708067
9 0.882 0.080 3 123346931 intron variant A/G snv 0.19 0.840 0.875 8 2010 2018
dbSNP: rs12779790
rs12779790
5 0.882 0.120 10 12286011 intergenic variant A/G snv 0.17 0.850 1.000 8 2008 2015
dbSNP: rs12970134
rs12970134
13 0.790 0.280 18 60217517 intergenic variant G/A snv 0.21 0.840 1.000 8 2009 2018
dbSNP: rs1552224
rs1552224
4 1.000 0.080 11 72722053 5 prime UTR variant A/C snv 0.12 0.820 1.000 8 2010 2018
dbSNP: rs163184
rs163184
1 1.000 0.080 11 2825839 intron variant T/G snv 0.40 0.810 1.000 8 2010 2018
dbSNP: rs2283228
rs2283228
1 1.000 0.080 11 2828300 intron variant A/C snv 0.10 0.760 1.000 8 2009 2017
dbSNP: rs2383208
rs2383208
5 0.882 0.120 9 22132077 downstream gene variant A/G;T snv 0.18 0.810 1.000 8 2009 2016
dbSNP: rs340874
rs340874
7 0.882 0.080 1 213985913 non coding transcript exon variant T/C snv 0.40 0.830 1.000 8 2010 2019
dbSNP: rs972283
rs972283
3 1.000 0.080 7 130782095 intergenic variant A/G;T snv 0.840 1.000 8 2010 2016
dbSNP: rs10440833
rs10440833
1 1.000 0.080 6 20687890 intron variant T/A;G snv 0.26 0.820 1.000 7 2010 2019