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: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.040 1.000 4 2010 2018
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2013 2020
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.030 1.000 3 2011 2019
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.020 1.000 2 2013 2019
dbSNP: rs2180619
rs2180619
3 1.000 0.040 6 88168233 upstream gene variant G/A snv 0.53 0.020 1.000 2 2009 2014
dbSNP: rs3219151
rs3219151
14 0.752 0.160 5 161701908 3 prime UTR variant C/T snv 0.51 0.020 1.000 2 2017 2019
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.020 1.000 2 2013 2015
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2012 2016
dbSNP: rs10034259
rs10034259
1 1.000 0.040 4 104012596 intron variant A/C snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs1006737
rs1006737
27 0.695 0.120 12 2236129 intron variant G/A snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs1017730
rs1017730
1 1.000 0.040 11 47711942 intron variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs10501320
rs10501320
5 0.925 0.120 11 47272248 5 prime UTR variant G/C snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs10769256
rs10769256
1 1.000 0.040 11 47356845 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10801153
rs10801153
3 0.925 0.080 1 192794818 intron variant G/A snv 0.27 0.010 1.000 1 2015 2015
dbSNP: rs10850379
rs10850379
1 1.000 0.040 12 109564972 non coding transcript exon variant C/T snv 0.40 0.700 1.000 1 2018 2018
dbSNP: rs10871777
rs10871777
6 0.925 0.120 18 60184530 intergenic variant A/G snv 0.24 0.700 1.000 1 2018 2018
dbSNP: rs11090045
rs11090045
2 1.000 0.040 22 41357599 3 prime UTR variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs1110976
rs1110976
3 1.000 0.040 11 113413797 intron variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs11159097
rs11159097
1 1.000 0.040 14 74633180 intergenic variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11191392
rs11191392
1 1.000 0.040 10 102767194 intron variant C/A snv 0.49 0.700 1.000 1 2018 2018
dbSNP: rs11204421
rs11204421
1 1.000 0.040 17 19994492 intergenic variant T/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs112146896
rs112146896
2 1.000 0.040 1 15418527 intron variant A/C;G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs112591851
rs112591851
1 1.000 0.040 19 51749131 intron variant C/T snv 2.1E-02 0.700 1.000 1 2018 2018