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: rs10798059
rs10798059
2 0.925 0.080 1 186830478 intron variant G/A snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs2072660
rs2072660
1 1.000 0.080 1 154576245 3 prime UTR variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs4845652
rs4845652
1 1.000 0.080 1 154565729 non coding transcript exon variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10865246
rs10865246
1 1.000 0.080 2 50443116 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs12466358
rs12466358
1 1.000 0.080 2 232532815 intron variant T/G snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs1486012
rs1486012
2 0.925 0.080 3 114120575 intergenic variant A/T snv 0.53 0.010 1.000 1 2008 2008
dbSNP: rs2399496
rs2399496
2 0.925 0.080 3 114127166 downstream gene variant T/A snv 0.45 0.010 1.000 1 2014 2014
dbSNP: rs2878298
rs2878298
1 1.000 0.080 3 49368647 intron variant T/C snv 0.43 0.010 1.000 1 2007 2007
dbSNP: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2008 2008
dbSNP: rs963468
rs963468
2 0.925 0.080 3 114144040 intron variant G/A snv 0.30 0.010 1.000 1 2008 2008
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2014 2014
dbSNP: rs1573496
rs1573496
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs4425326
rs4425326
2 0.925 0.080 4 155186084 intron variant C/T snv 0.47 0.010 1.000 1 2010 2010
dbSNP: rs4861065
rs4861065
1 1.000 0.080 4 40342378 intron variant T/C snv 0.32 0.010 1.000 1 2006 2006
dbSNP: rs698
rs698
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2004 2004
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2014 2014
dbSNP: rs2853676
rs2853676
29 0.667 0.560 5 1288432 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs31489
rs31489
10 0.763 0.320 5 1342599 intron variant C/A snv 0.41 0.010 1.000 1 2014 2014
dbSNP: rs378042
rs378042
1 1.000 0.080 5 111524099 intron variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2014 2014
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 2008 2008
dbSNP: rs6198
rs6198
16 0.724 0.480 5 143278056 3 prime UTR variant T/C snv 0.12 0.010 1.000 1 2013 2013
dbSNP: rs686
rs686
9 0.807 0.080 5 175441697 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.030 0.667 3 2011 2017