Source: ALL
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: rs3771180
rs3771180
2 1.000 0.080 2 102337157 5 prime UTR variant G/A;T snv 0.820 1.000 4 2011 2019
dbSNP: rs146597587
rs146597587
1 1.000 0.080 9 6255967 splice acceptor variant G/C snv 2.2E-03 2.0E-03 0.720 1.000 3 2017 2019
dbSNP: rs1588265
rs1588265
1 1.000 0.080 5 60073967 intron variant A/G;T snv 0.800 1.000 3 2009 2011
dbSNP: rs2073643
rs2073643
4 1.000 0.080 5 132387596 intron variant T/C snv 0.46 0.800 1.000 3 2010 2012
dbSNP: rs2244012
rs2244012
1 1.000 0.080 5 132565533 intron variant A/G snv 0.33 0.820 1.000 3 2010 2016
dbSNP: rs3771166
rs3771166
2 1.000 0.080 2 102369762 intron variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs744910
rs744910
1 1.000 0.080 15 67154447 intron variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs9840993
rs9840993
1 1.000 0.080 3 123739046 missense variant G/A snv 0.95 0.88 0.030 1.000 3 2007 2015
dbSNP: rs10192157
rs10192157
2 1.000 0.080 2 102351896 missense variant C/T snv 0.34 0.46 0.710 1.000 2 2010 2020
dbSNP: rs1046295
rs1046295
1 1.000 0.080 13 49528674 3 prime UTR variant G/A snv 0.50 0.48 0.020 1.000 2 2010 2011
dbSNP: rs11778371
rs11778371
1 1.000 0.080 8 27462388 intron variant C/T snv 4.0E-02 0.700 1.000 2 2009 2010
dbSNP: rs13408661
rs13408661
2 1.000 0.080 2 102338622 intron variant G/A snv 0.18 0.810 1.000 2 2011 2012
dbSNP: rs144829310
rs144829310
2 1.000 0.080 9 6208030 intergenic variant G/T snv 0.12 0.700 1.000 2 2016 2019
dbSNP: rs1544791
rs1544791
1 1.000 0.080 5 60143255 intron variant T/A;C snv 0.710 1.000 2 2009 2016
dbSNP: rs1684466
rs1684466
2 1.000 0.080 3 196632439 non coding transcript exon variant G/A;C snv 0.700 1.000 2 2019 2019
dbSNP: rs1810132
rs1810132
1 1.000 0.080 17 39709752 intron variant C/T snv 0.64 0.700 1.000 2 2010 2011
dbSNP: rs2236647
rs2236647
1 1.000 0.080 11 64197133 non coding transcript exon variant C/T snv 0.53 0.020 1.000 2 2017 2019
dbSNP: rs2271308
rs2271308
1 1.000 0.080 17 39661229 non coding transcript exon variant T/C snv 0.61 0.700 1.000 2 2010 2011
dbSNP: rs2548659
rs2548659
1 1.000 0.080 5 60088059 intron variant A/G snv 0.28 0.700 1.000 2 2009 2010
dbSNP: rs2806489
rs2806489
2 1.000 0.080 X 78327951 upstream gene variant C/T snv 0.020 0.500 2 2009 2017
dbSNP: rs2941504
rs2941504
1 1.000 0.080 17 39674647 synonymous variant A/G snv 0.67 0.64 0.710 1.000 2 2010 2011
dbSNP: rs3742879
rs3742879
2 1.000 0.080 14 67648284 3 prime UTR variant A/C;G snv 0.21 0.020 1.000 2 2010 2011
dbSNP: rs4378650
rs4378650
1 1.000 0.080 17 39924612 intron variant A/G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs4987053
rs4987053
1 1.000 0.080 3 46265209 synonymous variant T/C snv 9.2E-02; 4.0E-06 9.1E-02 0.020 0.500 2 2001 2007
dbSNP: rs6591255
rs6591255
1 1.000 0.080 11 67582077 upstream gene variant T/A snv 0.38 0.020 1.000 2 2008 2009