Source: GWASDB ×
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: rs540973741
rs540973741
2 0.925 0.120 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 4 2007 2012
dbSNP: rs5743293
rs5743293
2 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.830 1.000 4 2007 2017
dbSNP: rs2066845
rs2066845
1 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 1.000 0.949 3 2001 2019
dbSNP: rs212388
rs212388
4 0.827 0.240 6 159069404 intron variant C/G;T snv 0.810 1.000 3 2010 2017
dbSNP: rs10188217
rs10188217
1 0.925 0.080 2 60990407 intron variant T/A;C snv 0.800 1.000 2 2008 2011
dbSNP: rs10758669
rs10758669
5 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.850 1.000 2 2008 2016
dbSNP: rs11742570
rs11742570
2 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 2 2010 2017
dbSNP: rs2201841
rs2201841
4 0.716 0.440 1 67228519 intron variant A/G;T snv 0.850 1.000 2 2006 2013
dbSNP: rs2872507
rs2872507
7 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.820 1.000 2 2008 2016
dbSNP: rs5743289
rs5743289
2 1.000 0.040 16 50722863 intron variant C/G;T snv 0.810 1.000 2 2007 2014
dbSNP: rs10114470
rs10114470
2 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.710 1.000 1 2013 2014
dbSNP: rs10210302
rs10210302
1 1.000 0.040 2 233250193 intron variant C/A;T snv 0.810 1.000 1 2007 2010
dbSNP: rs10484545
rs10484545
1 1.000 0.040 6 29266733 intron variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10734105
rs10734105
1 1.000 0.040 10 131373856 intergenic variant G/A;C;T snv 0.800 1.000 1 2012 2012
dbSNP: rs10789230
rs10789230
1 1.000 0.040 1 67264945 downstream gene variant G/C;T snv 0.800 1.000 1 2007 2007
dbSNP: rs10889676
rs10889676
1 0.827 0.120 1 67256884 intron variant C/A;T snv 0.800 1.000 1 2007 2016
dbSNP: rs11195128
rs11195128
1 1.000 0.040 10 110426390 downstream gene variant C/G;T snv 0.810 1.000 1 2014 2017
dbSNP: rs11208994
rs11208994
1 1.000 0.040 1 67059360 regulatory region variant A/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs11465802
rs11465802
1 1.000 0.040 1 67219915 intron variant A/C;T snv 0.800 1.000 1 2007 2007
dbSNP: rs11640716
rs11640716
1 1.000 0.040 16 50631178 intron variant T/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs11804284
rs11804284
1 1.000 0.040 1 67233571 intron variant T/A;C;G snv 0.700 1.000 1 2007 2007
dbSNP: rs11871801
rs11871801
1 1.000 0.040 17 42418754 intron variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs12720356
rs12720356
2 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 1 2010 2016
dbSNP: rs12924696
rs12924696
1 1.000 0.040 16 50637810 3 prime UTR variant G/A;C snv 0.700 1.000 1 2007 2007
dbSNP: rs12994997
rs12994997
1 1.000 0.040 2 233264857 intron variant G/A;C snv 0.45; 4.0E-06 0.800 1.000 1 2012 2012