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: rs3782025
rs3782025
4 0.882 0.080 11 113936885 intron variant G/A snv 0.55 0.010 1.000 1 2009 2009
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: rs6350
rs6350
3 0.882 0.080 5 1443084 missense variant G/A;C snv 5.6E-02; 6.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.070 0.857 7 2010 2018
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: rs279871
rs279871
5 0.882 0.080 4 46303716 intron variant T/C snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs6318
rs6318
42 0.623 0.520 X 114731326 missense variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2011 2011
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: rs3811939
rs3811939
2 1.000 0.080 5 76954762 intron variant G/A snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs1015443
rs1015443
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 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: 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: 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: 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: rs17777298
rs17777298
1 1.000 0.080 5 148541962 intron variant T/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs56013859
rs56013859
2 0.925 0.080 2 238276865 intron variant T/C snv 0.11 0.010 1.000 1 2013 2013
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: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2014 2014
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 1.000 2 2015 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: rs6923761
rs6923761
4 0.851 0.200 6 39066296 missense variant G/A;C snv 0.23; 4.0E-06 0.010 1.000 1 2015 2015