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: rs1794275
rs1794275
2 1.000 0.120 6 32703471 downstream gene variant G/A snv 0.21 0.800 1.000 1 2011 2011
dbSNP: rs4227
rs4227
2 1.000 0.120 17 7587859 3 prime UTR variant G/T snv 0.71 0.67 0.800 1.000 1 2011 2011
dbSNP: rs4849121
rs4849121
3 0.925 0.160 2 110842129 intron variant G/A snv 0.44 0.800 1.000 1 2011 2011
dbSNP: rs10086568
rs10086568
2 1.000 0.120 8 7042814 upstream gene variant G/A snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs11150612
rs11150612
1 1.000 0.120 16 31346439 intergenic variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs11574637
rs11574637
3 0.882 0.200 16 31357553 missense variant T/C snv 0.21 0.700 1.000 1 2014 2014
dbSNP: rs1883414
rs1883414
3 0.925 0.200 6 33118671 non coding transcript exon variant G/A snv 0.28 0.700 1.000 1 2014 2014
dbSNP: rs2033562
rs2033562
1 1.000 0.120 8 102535511 intron variant G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2071543
rs2071543
4 0.925 0.200 6 32843852 missense variant G/T snv 0.14 0.13 0.700 1.000 1 2014 2014
dbSNP: rs2074038
rs2074038
1 1.000 0.120 11 44066439 5 prime UTR variant G/T snv 8.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs3129269
rs3129269
1 1.000 0.120 6 33129837 downstream gene variant C/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs7634389
rs7634389
1 1.000 0.120 3 187020633 intron variant T/C snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs7763262
rs7763262
1 1.000 0.120 6 32457105 downstream gene variant T/C snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs9264942
rs9264942
15 0.763 0.400 6 31306603 intron variant T/C snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs9275224
rs9275224
5 0.851 0.200 6 32692101 TF binding site variant A/G snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs9314614
rs9314614
2 1.000 0.120 8 6840209 intron variant C/G snv 0.61 0.700 1.000 1 2015 2015
dbSNP: rs10004195
rs10004195
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs1001703993
rs1001703993
3 0.882 0.120 1 161170696 missense variant G/A;T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1008898
rs1008898
1 1.000 0.120 7 7233928 intron variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1047763
rs1047763
2 0.925 0.120 7 7243938 3 prime UTR variant G/A snv 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs10490571
rs10490571
5 0.827 0.320 2 102100877 intron variant C/T snv 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1055901
rs1055901
1 1.000 0.120 18 63805221 3 prime UTR variant T/C snv 0.61 0.010 < 0.001 1 2016 2016
dbSNP: rs1055902
rs1055902
1 1.000 0.120 18 63805309 3 prime UTR variant C/T snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs1056654
rs1056654
2 0.925 0.160 16 82148406 3 prime UTR variant G/A snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1056675
rs1056675
2 0.925 0.160 16 82148329 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017