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: rs1436109
rs1436109
1 1.000 0.071 11 113120896 intron variant G/T snp 9.8E-02 0.800 1 2011 2011
dbSNP: rs16855517
rs16855517
1 1.000 0.071 2 168571553 intron variant G/A snp 1.7E-02 0.700 1 2011 2011
dbSNP: rs17132261
rs17132261
1 1.000 0.071 5 110672513 intron variant C/T snp 4.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs1974201
rs1974201
1 1.000 0.071 6 131889981 intron variant G/A,C,T snp 3.2E-05; 0.29 0.010 1.000 1 2012 2012
dbSNP: rs2292462
rs2292462
NMB
1 1.000 0.071 15 84657523 intron variant G/C,T snp 0.64 0.010 1.000 1 2013 2013
dbSNP: rs397515990
rs397515990
5 0.821 0.107 11 47335082 frameshift variant CAG/C in-del 0.010 1.000 1 2009 2009
dbSNP: rs409045
rs409045
1 1.000 0.071 5 34628522 intergenic variant C/T snp 0.66 0.700 1 2009 2009
dbSNP: rs4552930
rs4552930
1 1.000 0.071 8 48258398 intergenic variant A/G snp 9.3E-02 0.700 1 2013 2013
dbSNP: rs4552931
rs4552931
1 1.000 0.071 8 48258667 intergenic variant A/G snp 9.2E-02 0.700 1 2013 2013
dbSNP: rs4966014
rs4966014
2 1.000 0.071 15 98704789 intron variant C/G,T snp 0.76 0.010 1.000 1 2013 2013
dbSNP: rs59026483
rs59026483
6 0.821 0.143 1 156134457 missense variant C/T snp 0.010 1.000 1 2008 2008
dbSNP: rs7205297
rs7205297
1 1.000 0.071 16 71991632 intron variant G/A snp 0.77 0.700 1 2011 2011
dbSNP: rs7774046
rs7774046
1 1.000 0.071 6 39334656 3 prime UTR variant T/C snp 0.58 0.700 1 2011 2011
dbSNP: rs7836010
rs7836010
1 1.000 0.071 8 117849128 intron variant G/C snp 0.99 0.700 1 2011 2011
dbSNP: rs9402349
rs9402349
1 1.000 0.071 6 131863968 intron variant A/C snp 9.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs11053646
rs11053646
7 0.821 0.107 12 10160849 missense variant C/G snp 0.11 0.13 0.010 1.000 1 2016 2016
dbSNP: rs387907267
rs387907267
4 0.846 0.107 11 47335120 stop gained G/A snp 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs2278239
rs2278239
2 1.000 0.071 5 79737483 missense variant A/C,G snp 0.14; 2.8E-05 0.22 0.010 1.000 1 2008 2008
dbSNP: rs104894503
rs104894503
9 0.769 0.250 15 63060899 missense variant G/A snp 1.6E-05 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs267607626
rs267607626
3 0.923 0.071 1 156134454 missense variant C/T snp 1.6E-05 3.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs8192678
rs8192678
16 0.734 0.286 4 23814039 missense variant C/T snp 0.31 0.26 0.010 1.000 1 2016 2016
dbSNP: rs769940023
rs769940023
ACE
12 0.756 0.214 17 63488669 missense variant C/A,T snp 4.0E-06; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs2070951
rs2070951
4 0.846 0.179 4 148436862 splice region variant G/A,C snp 4.2E-06; 0.53 0.46 0.010 < 0.001 1 2016 2016
dbSNP: rs238234
rs238234
1 1.000 0.071 17 4980523 missense variant C/A,G,T snp 5.6E-05; 0.75; 8.1E-06 0.82 0.010 1.000 1 2016 2016
dbSNP: rs1042714
rs1042714
38 0.634 0.464 5 148826910 stop gained G/C,T snp 0.68 0.67 0.010 1.000 1 2007 2007