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: rs17007695
rs17007695
4 0.851 0.120 4 141788570 intergenic variant T/C snv 7.7E-02 0.020 1.000 2 2010 2015
dbSNP: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs17015014
rs17015014
1 1.000 0.120 4 141807619 regulatory region variant G/C snv 0.16 0.010 1.000 1 2010 2010
dbSNP: rs35964658
rs35964658
1 1.000 0.120 4 141758435 intergenic variant A/G snv 8.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs4748793
rs4748793
4 0.851 0.120 10 22194082 intergenic variant A/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs6140264
rs6140264
1 1.000 0.120 20 7395707 intergenic variant G/A snv 0.15 0.010 1.000 1 2010 2010
dbSNP: rs6944602
rs6944602
2 0.925 0.120 7 50406053 downstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs7789635
rs7789635
4 0.882 0.120 7 50405912 downstream gene variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs9901160
rs9901160
1 1.000 0.120 17 18371829 TF binding site variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.600 10 2003 2017
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.030 0.333 3 2007 2017
dbSNP: rs1164376164
rs1164376164
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs200378616
rs200378616
3 0.882 0.120 7 87544938 missense variant G/C;T snv 4.0E-05; 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs2229109
rs2229109
8 0.807 0.240 7 87550493 missense variant C/A;T snv 2.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs3213619
rs3213619
1 1.000 0.120 7 87600877 5 prime UTR variant A/G snv 5.2E-02 0.010 1.000 1 2007 2007
dbSNP: rs979090956
rs979090956
5 0.827 0.200 7 87553822 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs2274407
rs2274407
4 0.882 0.120 13 95206781 missense variant C/A;G;T snv 9.7E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2014 2014
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.020 1.000 2 2009 2010
dbSNP: rs1966862
rs1966862
8 0.790 0.120 4 85766908 intron variant A/G snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs10821936
rs10821936
11 0.742 0.200 10 61963818 intron variant C/T snv 0.69 0.100 1.000 11 2009 2019
dbSNP: rs7089424
rs7089424
10 0.752 0.200 10 61992400 intron variant T/G snv 0.32 0.090 1.000 9 2009 2019
dbSNP: rs10994982
rs10994982
7 0.790 0.120 10 61950345 intron variant A/G snv 0.49 0.070 0.857 7 2009 2019
dbSNP: rs10740055
rs10740055
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.020 1.000 2 2010 2014