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: rs11209026
rs11209026
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.040 1.000 4 2008 2019
dbSNP: rs4112788
rs4112788
4 0.851 0.120 1 152578800 downstream gene variant A/G;T snv 0.030 0.667 3 2010 2014
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.030 1.000 3 2008 2012
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.020 1.000 2 2012 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2006 2015
dbSNP: rs10888503
rs10888503
2 0.925 0.080 1 152621073 downstream gene variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs12044149
rs12044149
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs200215055
rs200215055
11 0.742 0.400 1 161626196 missense variant C/A;G;T snv 1.5E-03; 1.2E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4085613
rs4085613
5 0.827 0.160 1 152577542 downstream gene variant T/G snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs4655683
rs4655683
1 1.000 0.080 1 67145930 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs4908742
rs4908742
2 0.925 0.080 1 8184970 upstream gene variant A/C snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs13017599
rs13017599
3 0.882 0.160 2 60937196 non coding transcript exon variant G/A snv 0.25 0.810 1.000 3 2012 2015
dbSNP: rs10181656
rs10181656
9 0.763 0.360 2 191105153 intron variant G/C snv 0.79 0.020 1.000 2 2012 2017
dbSNP: rs10865331
rs10865331
5 0.827 0.120 2 62324337 intergenic variant A/G snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs702873
rs702873
3 0.882 0.120 2 60854407 intron variant C/T snv 0.35 0.810 1.000 1 2012 2012
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2006 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2014
dbSNP: rs4535211
rs4535211
1 1.000 0.080 3 17031505 intron variant A/G snv 0.60 0.010 1.000 1 2012 2012
dbSNP: rs4683946
rs4683946
2 0.925 0.080 3 101896982 intron variant G/T snv 0.19 0.700 1.000 1 2015 2015
dbSNP: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.050 1.000 5 2008 2019
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.040 1.000 4 2008 2019
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2009 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.020 1.000 2 2011 2011
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 1.000 2 2018 2019
dbSNP: rs848
rs848
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.020 1.000 2 2009 2011