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: rs2280828
rs2280828
1 8 117750197 intergenic variant T/C snp 4.5E-02 0.700 1 2017 2017
dbSNP: rs2907092
rs2907092
1 5 11047569 intron variant T/A,G snp 1.3E-04; 0.20 0.700 1 2017 2017
dbSNP: rs34213790
rs34213790
1 6 31350802 intron variant G/A snp 0.30 0.700 1 2017 2017
dbSNP: rs4842407
rs4842407
3 0.923 0.107 12 78807293 intron variant A/G snp 0.35 0.700 1 2017 2017
dbSNP: rs5010528
rs5010528
4 0.878 0.143 6 31273255 intron variant A/G snp 0.14 0.700 1 2017 2017
dbSNP: rs6139258
rs6139258
2 1.000 0.071 20 3977969 intron variant T/C snp 3.4E-02 0.700 1 2017 2017
dbSNP: rs12979860
rs12979860
47 0.608 0.500 19 39248147 intron variant C/T snp 0.38 0.050 0.800 5 2010 2014
dbSNP: rs1045642
rs1045642
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.020 1.000 2 2011 2013
dbSNP: rs1799864
rs1799864
39 0.626 0.536 3 46357717 missense variant G/A snp 0.13 0.12 0.020 1.000 2 2010 2011
dbSNP: rs28399499
rs28399499
4 0.878 0.250 19 41012316 missense variant T/C snp 5.1E-03 2.0E-02 0.020 1.000 2 2011 2016
dbSNP: rs3745274
rs3745274
16 0.744 0.393 19 41006936 missense variant G/A,T snp 4.0E-06; 0.27 0.26 0.020 1.000 2 2011 2016
dbSNP: rs10336
rs10336
2 1.000 0.036 4 76001835 3 prime UTR variant A/G,T snp 0.62 0.010 1.000 1 2015 2015
dbSNP: rs1048412
rs1048412
1 6 30064718 3 prime UTR variant A/G snp 0.15 0.16 0.010 1.000 1 2010 2010
dbSNP: rs10903035
rs10903035
4 0.923 0.071 1 24155450 3 prime UTR variant G/A snp 0.63 0.010 1.000 1 2014 2014
dbSNP: rs11045819
rs11045819
3 12 21176879 missense variant C/A,T snp 0.11; 4.0E-06 0.11 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs11540654
rs11540654
117 0.492 0.679 17 7676040 missense variant C/A,G,T snp 4.8E-05 3.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs11568350
rs11568350
6 0.846 0.143 2 189565370 missense variant C/A snp 3.8E-03 1.4E-02 0.010 1.000 1 2012 2012
dbSNP: rs11881222
rs11881222
4 0.923 0.071 19 39244283 intron variant A/G snp 0.29 0.010 1.000 1 2013 2013
dbSNP: rs14158
rs14158
3 1.000 0.071 19 11131368 synonymous variant G/A snp 0.24 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1552896
rs1552896
1 9 14841389 intron variant C/A,G snp 3.2E-05; 0.17 0.010 1.000 1 2013 2013
dbSNP: rs16910527
rs16910527
2 1.000 0.036 12 10118534 missense variant A/C snp 2.5E-03 1.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs179008
rs179008
6 0.878 0.143 X 12885540 missense variant A/T snp 0.18 0.19 0.010 1.000 1 2009 2009
dbSNP: rs1799972
rs1799972
4 0.923 0.071 6 154039561 missense variant C/A,G,T snp 4.1E-06; 1.7E-02 3.2E-05; 6.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800452
rs1800452
1 3 46373570 missense variant G/A snp 4.9E-03 3.1E-03 0.010 < 0.001 1 2005 2005