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: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.030 1.000 3 2004 2010
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 0.500 2 2004 2006
dbSNP: rs2631367
rs2631367
4 0.925 0.120 5 132369766 5 prime UTR variant C/G snv 0.59 0.010 1.000 1 2005 2005
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: 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: rs6887695
rs6887695
14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.050 1.000 5 2008 2019
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: 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: 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: 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: 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
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.820 1.000 4 2010 2015
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: rs13190932
rs13190932
1 1.000 0.080 6 111591867 missense variant G/A snv 5.3E-02 5.0E-02 0.710 1.000 2 2010 2019
dbSNP: rs12188300
rs12188300
6 0.807 0.120 5 159402519 intron variant A/G;T snv 0.800 1.000 1 2010 2010
dbSNP: rs13191343
rs13191343
1 1.000 0.080 6 31273332 intron variant C/G;T snv 0.13 0.800 1.000 1 2010 2010
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: 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: 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: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.020 1.000 2 2012 2014
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: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2012 2012
dbSNP: rs4535211
rs4535211
1 1.000 0.080 3 17031505 intron variant A/G snv 0.60 0.010 1.000 1 2012 2012