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: rs30187
rs30187
10 0.769 0.214 5 96788627 missense variant T/A,C snp 0.62 0.64 0.900 1.000 16 2009 2017
dbSNP: rs27434
rs27434
1 1.000 0.036 5 96793809 synonymous variant A/G,T snp 0.72; 1.2E-05 0.72 0.870 1.000 8 2010 2016
dbSNP: rs11209026
rs11209026
24 0.673 0.321 1 67240275 missense variant G/A snp 4.2E-02 4.5E-02 0.860 1.000 9 2008 2014
dbSNP: rs10865331
rs10865331
4 0.846 0.107 2 62324337 intergenic variant A/G snp 0.58 0.820 1.000 4 2010 2011
dbSNP: rs4333130
rs4333130
1 1.000 0.036 4 80028675 intron variant C/G,T snp 3.2E-05; 0.59 0.820 1.000 3 2010 2017
dbSNP: rs10440635
rs10440635
2 1.000 0.036 5 40490688 regulatory region variant G/A snp 0.55 0.810 1.000 2 2011 2014
dbSNP: rs17095830
rs17095830
2 1.000 0.036 12 45381125 intron variant A/G snp 7.5E-02 0.810 1.000 2 2012 2013
dbSNP: rs2310173
rs2310173
2 0.923 0.071 2 102047167 intergenic variant T/C,G snp 0.66 0.810 1.000 2 2010 2017
dbSNP: rs4349859
rs4349859
1 1.000 0.036 6 31398010 intergenic variant G/A snp 3.8E-02 0.810 1.000 2 2011 2012
dbSNP: rs4552569
rs4552569
2 1.000 0.036 5 83877774 intergenic variant C/T snp 0.76 0.810 1.000 2 2012 2013
dbSNP: rs8070463
rs8070463
2 0.923 0.107 17 47691470 intergenic variant T/C snp 0.54 0.810 1.000 2 2011 2013
dbSNP: rs11616188
rs11616188
5 0.821 0.107 12 6393576 G/A snp 0.32 0.800 2 2011 2017
dbSNP: rs11249215
rs11249215
1 1.000 0.036 1 24970693 non coding transcript exon variant G/A snp 0.44 0.800 1 2011 2011
dbSNP: rs13210693
rs13210693
3 1.000 0.036 6 109277761 intron variant G/A snp 0.62 0.800 1 2012 2012
dbSNP: rs2242944
rs2242944
1 1.000 0.036 21 39093252 intergenic variant G/A snp 0.45 0.800 1 2010 2010
dbSNP: rs2297909
rs2297909
2 0.923 0.071 1 200991179 intron variant G/A snp 0.27 0.27 0.800 1 2011 2011
dbSNP: rs378108
rs378108
1 1.000 0.036 21 39097594 regulatory region variant A/G snp 0.44 0.800 1 2011 2011
dbSNP: rs4389526
rs4389526
1 1.000 0.036 4 80025321 intron variant T/A snp 0.59 0.800 1 2011 2011
dbSNP: rs6556416
rs6556416
1 1.000 0.036 5 159391737 intron variant A/C,T snp 0.75 0.800 1 2011 2011
dbSNP: rs7743761
rs7743761
1 1.000 0.036 6 31368323 intergenic variant C/A snp 0.30 0.800 1 2010 2010
dbSNP: rs10050860
rs10050860
3 0.878 0.214 5 96786506 missense variant C/T snp 0.15 0.17 0.750 1.000 6 2010 2015
dbSNP: rs4986790
rs4986790
146 0.465 0.750 9 117713024 missense variant A/G,T snp 6.1E-02; 4.0E-06 6.7E-02 0.750 0.400 6 2005 2017
dbSNP: rs2066845
rs2066845
28 0.662 0.429 16 50722629 missense variant G/C,T snp 1.1E-02; 2.2E-04 7.8E-03; 3.2E-05 0.720 0.500 3 2002 2017
dbSNP: rs27037
rs27037
1 1.000 0.036 5 96758990 intron variant T/G snp 0.72 0.710 1.000 2 2010 2011
dbSNP: rs6871626
rs6871626
6 0.821 0.179 5 159399784 intron variant C/A snp 0.29 0.710 1.000 2 2013 2016