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: rs2736337
rs2736337
5 0.827 0.240 8 11484371 upstream gene variant T/C snv 0.26 0.700 1.000 1 2019 2019
dbSNP: rs2844494
rs2844494
2 0.925 0.160 6 31515638 upstream gene variant C/A snv 0.70 0.700 1.000 1 2010 2010
dbSNP: rs2856705
rs2856705
3 0.882 0.200 6 32703179 downstream gene variant C/T snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs310746
rs310746
1 1.000 0.040 3 12218116 intergenic variant C/T snv 0.93 0.010 1.000 1 2014 2014
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: 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: rs3131917
rs3131917
3 0.882 0.080 5 173230018 upstream gene variant T/G snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs35929052
rs35929052
5 0.827 0.160 16 85960878 downstream gene variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4342938
rs4342938
1 1.000 0.040 10 131557214 intergenic variant A/G snv 0.41 0.700 1.000 1 2013 2013
dbSNP: rs4554699
rs4554699
2 0.925 0.040 1 161638578 intergenic variant A/G snv 0.700 1.000 1 2018 2018
dbSNP: rs4790797
rs4790797
1 1.000 0.040 17 5652037 intergenic variant G/A snv 0.44 0.010 1.000 1 2011 2011
dbSNP: rs5000634
rs5000634
4 0.851 0.200 6 32695787 intergenic variant A/G snv 0.39 0.700 1.000 1 2010 2010
dbSNP: rs58721818
rs58721818
4 0.851 0.160 6 137922602 regulatory region variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs6073976
rs6073976
1 1.000 0.040 20 45980011 upstream gene variant G/A snv 0.700 1.000 1 2018 2018
dbSNP: rs624988
rs624988
2 0.925 0.120 1 116721168 regulatory region variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs638376
rs638376
1 1.000 0.040 X 114998678 intergenic variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs6726035
rs6726035
3 0.882 0.120 2 204251279 regulatory region variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2013 2013
dbSNP: rs6832151
rs6832151
2 0.925 0.160 4 40301616 intergenic variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs685985
rs685985
1 1.000 0.040 8 60652405 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6901221
rs6901221
2 0.925 0.160 6 33130499 downstream gene variant A/C snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs6920220
rs6920220
14 0.742 0.440 6 137685367 intron variant G/A snv 0.16 0.010 < 0.001 1 2010 2010
dbSNP: rs6932056
rs6932056
3 0.925 0.080 6 137921300 intergenic variant T/C snv 3.4E-02 0.010 1.000 1 2013 2013