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: rs3129763
rs3129763
6 0.827 0.280 6 32623148 TF binding site variant G/A snv 0.23 0.800 1.000 1 2011 2011
dbSNP: rs3129882
rs3129882
6 0.807 0.240 6 32441753 intron variant G/A snv 0.56 0.800 1.000 1 2011 2011
dbSNP: rs3130573
rs3130573
1 1.000 0.040 6 31138491 non coding transcript exon variant A/C;G snv 8.1E-06; 0.33 0.800 1.000 1 2011 2011
dbSNP: rs3827644
rs3827644
2 0.925 0.080 6 106237320 intron variant G/C snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs704840
rs704840
4 0.851 0.240 1 173257056 intergenic variant T/G snv 0.29 0.800 1.000 1 2013 2013
dbSNP: rs7172677
rs7172677
2 0.925 0.080 15 75132252 intergenic variant A/C snv 0.71 0.800 1.000 1 2013 2013
dbSNP: rs7601754
rs7601754
3 0.882 0.160 2 191075725 intron variant G/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs9296015
rs9296015
4 0.851 0.280 6 32251212 upstream gene variant G/A snv 0.22 0.800 1.000 1 2011 2011
dbSNP: rs960709
rs960709
5 0.882 0.120 5 151081488 intron variant A/G;T snv 0.800 1.000 1 2013 2013
dbSNP: rs987870
rs987870
4 0.851 0.160 6 33075103 intron variant A/G snv 0.19 0.800 1.000 1 2011 2011
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.760 0.857 7 2006 2019
dbSNP: rs35677470
rs35677470
6 0.807 0.160 3 58197909 missense variant G/A;C snv 4.8E-02; 4.0E-06 0.710 1.000 4 2014 2019
dbSNP: rs3894194
rs3894194
3 0.882 0.120 17 39965740 missense variant G/A snv 0.46 0.41 0.710 1.000 2 2017 2018
dbSNP: rs3117230
rs3117230
3 0.882 0.200 6 33107858 upstream gene variant A/G snv 0.28 0.710 1.000 1 2009 2009
dbSNP: rs3128930
rs3128930
3 0.925 0.120 6 33107889 upstream gene variant C/T snv 0.31 0.710 1.000 1 2009 2009
dbSNP: rs3128965
rs3128965
3 0.882 0.280 6 33088122 3 prime UTR variant G/A snv 0.14 0.710 1.000 1 2009 2009
dbSNP: rs10174238
rs10174238
14 0.724 0.200 2 191108308 intron variant G/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs11893432
rs11893432
5 0.827 0.120 2 191057148 intron variant C/G snv 0.21 0.700 1.000 2 2014 2018
dbSNP: rs1005714
rs1005714
1 1.000 0.040 17 75228544 5 prime UTR variant G/C snv 0.78 0.700 1.000 1 2019 2019
dbSNP: rs10186029
rs10186029
1 1.000 0.040 2 213064562 intron variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10220668
rs10220668
1 1.000 0.040 14 59042487 intron variant A/G snv 0.30 0.700 1.000 1 2013 2013
dbSNP: rs1035798
rs1035798
1 1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19 0.700 1.000 1 2010 2010
dbSNP: rs10954214
rs10954214
4 0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs11066301
rs11066301
12 0.827 0.200 12 112433568 intron variant A/G snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725
4 0.851 0.160 19 10351837 intron variant C/T snv 0.24 0.700 1.000 1 2019 2019