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: rs6010620
rs6010620
21 0.701 0.360 20 63678486 intron variant A/C;G snv 0.900 0.952 21 2009 2020
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.900 0.889 18 2009 2020
dbSNP: rs498872
rs498872
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.900 0.941 17 2009 2020
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.900 0.875 16 2009 2020
dbSNP: rs4295627
rs4295627
11 0.763 0.200 8 129673211 intron variant T/G snv 0.17 0.900 1.000 12 2009 2020
dbSNP: rs2252586
rs2252586
5 0.882 0.040 7 54911231 intergenic variant C/T snv 0.27 0.860 0.833 6 2011 2017
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.850 1.000 6 2011 2018
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.840 1.000 6 2009 2017
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.820 1.000 5 2009 2019
dbSNP: rs2297440
rs2297440
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.820 1.000 5 2009 2018
dbSNP: rs1920116
rs1920116
5 0.882 0.040 3 169862183 intron variant G/A snv 0.25 0.820 1.000 2 2014 2015
dbSNP: rs1412829
rs1412829
14 0.742 0.400 9 22043927 intron variant A/G snv 0.28 0.810 1.000 4 2009 2016
dbSNP: rs891835
rs891835
5 0.851 0.120 8 129479506 intron variant T/G snv 0.17 0.810 1.000 3 2009 2019
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 49 2009 2019
dbSNP: rs4809324
rs4809324
7 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 0.800 1.000 1 2009 2009
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.760 1.000 9 2013 2019
dbSNP: rs6470745
rs6470745
3 0.882 0.040 8 129629675 intron variant A/G snv 0.18 0.720 1.000 4 2009 2019
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.720 1.000 4 2012 2018
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.720 1.000 2 2011 2012
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: rs17748
rs17748
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.710 1.000 3 2009 2012
dbSNP: rs634537
rs634537
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.710 1.000 3 2017 2019
dbSNP: rs11706832
rs11706832
2 1.000 0.040 3 66452557 intron variant A/C;G snv 0.710 1.000 2 2017 2018
dbSNP: rs1801591
rs1801591
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.710 1.000 2 2015 2017
dbSNP: rs2151280
rs2151280
16 0.701 0.360 9 22034720 non coding transcript exon variant G/A snv 0.46 0.710 1.000 2 2011 2019