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: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2010 2010
dbSNP: rs104893878
rs104893878
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1060504185
rs1060504185
1 9 21971116 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs363043
rs363043
3 0.925 0.080 20 10245498 intron variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs61751362
rs61751362
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs771138120
rs771138120
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs4291
rs4291
ACE
20 0.724 0.400 17 63476833 upstream gene variant T/A;C snv 0.020 1.000 2 2006 2012
dbSNP: rs121912678
rs121912678
8 0.851 0.080 2 157774114 missense variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs202247812
rs202247812
2 1.000 0.160 12 25225717 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs5742912
rs5742912
3 0.925 0.160 12 6349184 missense variant A/G snv 1.9E-02 1.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs773857
rs773857
1 19 16908042 intron variant C/T snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs776423109
rs776423109
C3
2 1.000 0.120 19 6718117 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2012 2013
dbSNP: rs10938397
rs10938397
19 0.851 0.200 4 45180510 intergenic variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs1156401234
rs1156401234
1 12 32740421 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs206936
rs206936
8 0.882 0.160 6 34335092 intron variant A/G snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs2110267
rs2110267
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs74315431
rs74315431
15 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 < 0.001 1 2013 2013
dbSNP: rs750257282
rs750257282
3 1.000 0.040 11 3038127 missense variant C/G;T snv 3.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.040 1.000 4 2006 2014
dbSNP: rs104895321
rs104895321
MVK
4 0.882 0.240 12 109591301 missense variant C/G;T snv 1.4E-04 0.010 1.000 1 2014 2014
dbSNP: rs121908153
rs121908153
4 0.882 0.080 1 247424356 missense variant G/A;C snv 0.010 1.000 1 2014 2014