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: rs11071559
rs11071559
4 0.925 0.080 15 60777789 intron variant C/T snv 0.23 0.820 1.000 7 2010 2019
dbSNP: rs11078927
rs11078927
3 0.925 0.080 17 39908152 intron variant C/T snv 0.40 0.35 0.820 1.000 5 2011 2018
dbSNP: rs8069176
rs8069176
4 0.882 0.080 17 39900944 downstream gene variant G/A;T snv 0.740 1.000 5 2008 2018
dbSNP: rs907092
rs907092
3 0.925 0.080 17 39766006 synonymous variant G/A snv 0.41 0.36 0.810 1.000 5 2010 2019
dbSNP: rs992969
rs992969
4 0.882 0.080 9 6209697 intergenic variant A/G;T snv 0.810 1.000 5 2010 2019
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: rs3859192
rs3859192
3 0.925 0.080 17 39972395 intron variant C/T snv 0.42 0.820 1.000 4 2010 2016
dbSNP: rs8079416
rs8079416
2 0.925 0.080 17 39936460 intron variant T/C snv 0.45 0.710 1.000 4 2010 2012
dbSNP: rs12964116
rs12964116
2 0.925 0.080 18 63775385 5 prime UTR variant A/G snv 3.0E-02 0.700 1.000 3 2019 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: rs2280091
rs2280091
3 0.882 0.080 20 3669587 missense variant A/G snv 0.13 0.14 0.030 1.000 3 2006 2019
dbSNP: rs3122929
rs3122929
4 0.882 0.080 12 57115319 intron variant C/T snv 0.33 0.700 1.000 3 2019 2019
dbSNP: rs3771166
rs3771166
2 1.000 0.080 2 102369762 intron variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs6503525
rs6503525
2 0.925 0.080 17 39938921 intron variant G/A;C snv 0.810 1.000 3 2011 2015
dbSNP: rs72823641
rs72823641
4 0.882 0.080 2 102319699 intron variant T/A;C snv 0.700 1.000 3 2018 2019
dbSNP: rs744910
rs744910
1 1.000 0.080 15 67154447 intron variant G/A;T snv 0.810 1.000 3 2010 2012
dbSNP: rs7936312
rs7936312
5 0.882 0.080 11 76582682 intergenic variant G/T snv 0.44 0.700 1.000 3 2019 2019
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: rs10187276
rs10187276
2 0.925 0.080 2 227805721 upstream gene variant T/C snv 0.62 0.700 1.000 2 2019 2019
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: rs117710327
rs117710327
5 0.882 0.080 19 33235672 TF binding site variant C/A snv 5.0E-02 0.700 1.000 2 2019 2019