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: rs536599
rs536599
2 1.000 0.080 4 46196917 intergenic variant G/T snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.060 1.000 6 2013 2018
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs141973904
rs141973904
1 1.000 0.080 4 99341085 intron variant C/T snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs916264
rs916264
1 1.000 0.080 22 36237790 intron variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs4964057
rs4964057
3 0.882 0.080 12 27363909 intron variant T/G snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs7958822
rs7958822
6 0.807 0.200 12 27348173 intron variant G/A snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2010 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2010 2018
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2412646
rs2412646
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2019 2019
dbSNP: rs3811939
rs3811939
2 1.000 0.080 5 76954762 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4532
rs4532
7 0.827 0.160 5 175443147 5 prime UTR variant C/T snv 0.68 0.72 0.010 1.000 1 2019 2019
dbSNP: rs2119183
rs2119183
2 1.000 0.080 4 46270789 intron variant G/A snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs279858
rs279858
8 0.851 0.080 4 46312576 synonymous variant T/C snv 0.40 0.38 0.010 1.000 1 2017 2017
dbSNP: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs3756007
rs3756007
2 1.000 0.080 4 46389047 5 prime UTR variant T/C snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs11941860
rs11941860
2 1.000 0.080 4 46080161 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
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: rs11250159
rs11250159
1 1.000 0.080 8 11729725 intron variant G/A;T snv 0.010 1.000 1 2018 2018