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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2013 2018
dbSNP: rs920778
rs920778
36 0.633 0.480 12 53966448 intron variant G/A snv 0.57 0.030 1.000 3 2016 2018
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2018 2020
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.020 1.000 2 2005 2019
dbSNP: rs11079454
rs11079454
3 0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv 0.020 0.500 2 2013 2016
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2013 2017
dbSNP: rs11536889
rs11536889
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.020 0.500 2 2017 2019
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.020 1.000 2 2014 2014
dbSNP: rs13117307
rs13117307
6 0.827 0.080 4 55885574 intron variant C/T snv 0.21 0.020 1.000 2 2016 2017
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 1.000 2 2010 2016
dbSNP: rs1800682
rs1800682
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 < 0.001 2 2014 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2015 2016
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.020 1.000 2 2015 2016
dbSNP: rs1801270
rs1801270
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 0.500 2 2012 2016
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.020 0.500 2 2011 2018
dbSNP: rs2048718
rs2048718
5 0.827 0.120 17 61863458 5 prime UTR variant C/T snv 0.42 0.020 0.500 2 2016 2018
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.020 1.000 2 2013 2016
dbSNP: rs2279744
rs2279744
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.020 1.000 2 2013 2018
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.020 1.000 2 2016 2016
dbSNP: rs2516448
rs2516448
10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.020 1.000 2 2014 2016
dbSNP: rs266085
rs266085
5 0.851 0.200 10 44378805 intron variant C/T snv 0.32 0.020 1.000 2 2009 2015
dbSNP: rs3117027
rs3117027
3 0.882 0.080 6 33121846 intron variant C/A;G snv 0.020 1.000 2 2014 2018
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2009 2012
dbSNP: rs3746444
rs3746444
105 0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19 0.020 1.000 2 2019 2019