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: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2014 2014
dbSNP: rs1800532
rs1800532
15 0.763 0.160 11 18026269 intron variant G/T snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2015 2015
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs893290
rs893290
1 15 61190958 intron variant G/T snv 0.96 0.010 1.000 1 2015 2015
dbSNP: rs13438494
rs13438494
6 1.000 0.040 7 82759398 intron variant T/G snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.020 1.000 2 2019 2019
dbSNP: rs678849
rs678849
5 0.882 0.120 1 28818676 intron variant C/T snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs9829896
rs9829896
2 3 20135980 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11792633
rs11792633
5 0.882 0.280 9 6248035 intron variant C/T snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs7044343
rs7044343
13 0.752 0.520 9 6254208 intron variant C/T snv 0.51 0.010 1.000 1 2016 2016
dbSNP: rs1885884
rs1885884
2 13 46856141 non coding transcript exon variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs7997012
rs7997012
11 0.807 0.080 13 46837850 intron variant A/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs9316235
rs9316235
2 13 46871568 intron variant G/A snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2005 2005
dbSNP: rs279826
rs279826
4 1.000 0.080 4 46332192 intron variant A/G snv 0.46 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 2012 2012
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.020 1.000 2 2011 2018
dbSNP: rs3798347
rs3798347
3 0.925 0.040 6 35633999 intron variant A/T snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.030 1.000 3 2010 2019
dbSNP: rs10947563
rs10947563
3 0.925 0.040 6 35685660 intron variant G/A snv 0.77 0.010 1.000 1 2016 2016
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2006 2006
dbSNP: rs56372821
rs56372821
2 1.000 0.080 8 27578983 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019