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: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2003 2003
dbSNP: rs4505848
rs4505848
8 0.776 0.400 4 122211337 intron variant A/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs4936742
rs4936742
2 0.925 0.200 11 122770378 intron variant T/C snv 0.64 0.010 1.000 1 2019 2019
dbSNP: rs8177374
rs8177374
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.020 1.000 2 2011 2013
dbSNP: rs2542151
rs2542151
11 0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs1893217
rs1893217
14 0.742 0.440 18 12809341 intron variant A/G snv 0.12 0.010 1.000 1 2014 2014
dbSNP: rs5743733
rs5743733
2 0.925 0.280 X 12871589 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7234029
rs7234029
7 0.807 0.320 18 12877061 intron variant A/G snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs752637
rs752637
2 0.925 0.280 7 128939366 intron variant T/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs2280714
rs2280714
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 < 0.001 1 2009 2009
dbSNP: rs76481776
rs76481776
4 0.925 0.200 7 129770387 non coding transcript exon variant C/G;T snv 5.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs6937506
rs6937506
7 0.807 0.280 6 132578260 intergenic variant G/A snv 0.25 0.010 1.000 1 2010 2010
dbSNP: rs4073153
rs4073153
3 1.000 0.200 9 136364897 non coding transcript exon variant A/G snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs10499194
rs10499194
10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs9494885
rs9494885
3 0.882 0.320 6 137851611 intron variant T/C snv 0.20 0.010 1.000 1 2013 2013
dbSNP: rs7753873
rs7753873
3 0.882 0.320 6 137852285 intron variant A/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs10277380
rs10277380
1 1.000 0.200 7 150533604 intergenic variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs11769828
rs11769828
1 1.000 0.200 7 150534221 intergenic variant C/T snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1916012
rs1916012
1 1.000 0.200 7 150536739 intergenic variant A/G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs1522596
rs1522596
1 1.000 0.200 7 150538695 downstream gene variant A/G snv 0.47 0.700 1.000 1 2013 2013
dbSNP: rs10236188
rs10236188
1 1.000 0.200 7 150548168 intergenic variant T/C snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs1608157
rs1608157
1 1.000 0.200 7 150549936 intergenic variant C/G;T snv 0.710 1.000 1 2013 2013
dbSNP: rs10256482
rs10256482
1 1.000 0.200 7 150653887 intergenic variant T/C snv 0.47 0.700 1.000 1 2013 2013