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: rs10044881
rs10044881
1 1.000 0.080 5 148645656 non coding transcript exon variant T/C snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs10405681
rs10405681
1 1.000 0.080 19 3634021 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10419980
rs10419980
1 1.000 0.080 19 3685118 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10432303
rs10432303
1 1.000 0.080 19 3656654 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
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: rs11250159
rs11250159
1 1.000 0.080 8 11729725 intron variant G/A;T snv 0.010 1.000 1 2018 2018
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: 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: rs1476592
rs1476592
1 1.000 0.080 19 3679742 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17777298
rs17777298
1 1.000 0.080 5 148541962 intron variant T/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2019 2019
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: rs2074957
rs2074957
1 1.000 0.080 19 3653527 synonymous variant C/A;T snv 8.0E-06; 0.57 0.010 1.000 1 2018 2018
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: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
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: rs2836016
rs2836016
2 0.925 0.080 21 37840718 intron variant G/A snv 0.59 0.58 0.010 1.000 1 2011 2011
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: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
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: rs4432372
rs4432372
1 1.000 0.080 19 3698844 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.010 < 0.001 1 2009 2009
dbSNP: rs4807493
rs4807493
1 1.000 0.080 19 3631038 3 prime UTR variant A/G snv 0.84 0.010 1.000 1 2018 2018
dbSNP: rs4964057
rs4964057
3 0.882 0.080 12 27363909 intron variant T/G snv 0.29 0.010 1.000 1 2012 2012