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: rs1394220
rs1394220
1 1.000 0.080 6 90309585 intron variant A/C snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs62321692
rs62321692
1 1.000 0.080 4 122340375 intron variant A/C snv 5.1E-02 0.700 1.000 1 2016 2016
dbSNP: rs990171
rs990171
2 1.000 0.080 2 102470310 upstream gene variant A/C snv 0.78 0.800 1.000 1 2011 2011
dbSNP: rs1250552
rs1250552
5 0.882 0.200 10 79298270 intron variant A/C;G snv 0.800 1.000 2 2010 2011
dbSNP: rs1893592
rs1893592
12 0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06 0.800 1.000 2 2011 2016
dbSNP: rs13010713
rs13010713
5 0.882 0.200 2 181131318 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs9792269
rs9792269
5 0.882 0.200 8 128252343 intergenic variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs11145763
rs11145763
14 0.724 0.240 9 136369144 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs17810546
rs17810546
7 0.827 0.440 3 159947262 intron variant A/G snv 8.2E-02 0.820 1.000 4 2008 2020
dbSNP: rs13003464
rs13003464
7 0.827 0.200 2 60959694 intron variant A/G snv 0.50 0.800 1.000 3 2010 2012
dbSNP: rs13151961
rs13151961
7 0.827 0.200 4 122194347 intron variant A/G snv 0.11 0.800 1.000 3 2007 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2005 2019
dbSNP: rs13119723
rs13119723
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2007 2008
dbSNP: rs13132308
rs13132308
6 0.807 0.160 4 122629959 intron variant A/G snv 0.10 0.800 1.000 2 2011 2012
dbSNP: rs182429
rs182429
1 1.000 0.080 6 159048542 intron variant A/G snv 0.49 0.800 1.000 2 2011 2012
dbSNP: rs2327832
rs2327832
10 0.790 0.320 6 137651931 intergenic variant A/G snv 0.16 0.810 1.000 2 2009 2010
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2006 2006
dbSNP: rs6715106
rs6715106
1 1.000 0.080 2 191048308 intron variant A/G snv 6.1E-02 0.800 1.000 2 2011 2012
dbSNP: rs79758729
rs79758729
1 1.000 0.080 7 37378851 intron variant A/G snv 7.9E-02 0.700 1.000 2 2011 2012
dbSNP: rs10491434
rs10491434
2 1.000 0.080 5 35877812 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs10903122
rs10903122
5 0.882 0.200 1 24977085 intergenic variant A/G snv 0.56 0.800 1.000 1 2010 2010
dbSNP: rs1131498
rs1131498
13 0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12598357
rs12598357
15 0.724 0.240 16 28329624 intergenic variant A/G snv 0.43 0.700 1.000 1 2015 2015
dbSNP: rs17466626
rs17466626
14 0.724 0.240 12 40366829 non coding transcript exon variant A/G snv 1.7E-02 0.700 1.000 1 2015 2015