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: rs1058319
rs1058319
2 1.000 0.040 20 63743036 3 prime UTR variant C/A;T snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs1059394
rs1059394
2 0.925 0.080 18 672792 3 prime UTR variant C/T snv 0.40 0.020 1.000 2 2019 2019
dbSNP: rs1059513
rs1059513
11 0.776 0.240 12 57095926 3 prime UTR variant T/C snv 8.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.710 1.000 3 2009 2018
dbSNP: rs1064794096
rs1064794096
2 1.000 0.040 10 87864514 missense variant A/C;T snv 0.700 0
dbSNP: rs10764901
rs10764901
1 1.000 0.040 10 129716598 intron variant A/G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs10842893
rs10842893
1 1.000 0.040 12 27269953 intron variant C/T snv 7.1E-02 0.710 1.000 1 2019 2019
dbSNP: rs10852606
rs10852606
4 0.882 0.040 16 50094961 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10892258
rs10892258
4 0.925 0.120 11 118709156 intron variant G/A snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs10924303
rs10924303
2 1.000 0.040 1 245683732 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs10924690
rs10924690
2 1.000 0.040 1 246320481 intron variant G/A snv 0.20 0.700 1.000 1 2009 2009
dbSNP: rs11079041
rs11079041
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs11163687
rs11163687
2 1.000 0.040 1 83199436 intergenic variant A/G snv 9.6E-02 0.700 1.000 1 2009 2009
dbSNP: rs11166389
rs11166389
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs111696067
rs111696067
2 1.000 0.040 12 132799954 intron variant T/C snv 5.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs11196067
rs11196067
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.020 1.000 2 2017 2018
dbSNP: rs11196172
rs11196172
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs11216930
rs11216930
2 1.000 0.040 11 118618067 intron variant A/C snv 0.22 0.700 1.000 1 2011 2011
dbSNP: rs11216943
rs11216943
1 1.000 0.040 11 118685689 downstream gene variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11233250
rs11233250
4 0.882 0.040 11 82685972 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs1131239
rs1131239
1 1.000 0.040 4 121696590 5 prime UTR variant G/A;C;T snv 0.12 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.571 7 2008 2018
dbSNP: rs11337
rs11337
4 0.925 0.120 8 41510767 3 prime UTR variant T/G snv 0.93 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 18 2011 2020
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.080 1.000 8 2009 2019