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: rs606231194
rs606231194
5 1.000 0.071 X 48902399 frameshift variant GAGAG/G in-del 0.700 0
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.030 1.000 3 2007 2014
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.020 1.000 2 2013 2014
dbSNP: rs34637584
rs34637584
47 0.630 0.321 12 40340400 missense variant G/A snp 5.3E-04 1.9E-04 0.020 1.000 2 2012 2014
dbSNP: rs4291
rs4291
ACE
13 0.784 0.107 17 63476833 regulatory region variant T/A,C snp 0.64 0.020 1.000 2 2006 2013
dbSNP: rs5742912
rs5742912
3 0.923 0.143 12 6349184 missense variant A/G snp 1.9E-02 1.5E-02 0.020 1.000 2 2009 2012
dbSNP: rs63750756
rs63750756
18 0.734 0.107 17 46010324 missense variant T/G snp 2.6E-05 0.020 1.000 2 2003 2005
dbSNP: rs104893877
rs104893877
31 0.679 0.250 4 89828149 missense variant C/T snp 0.010 1.000 1 2010 2010
dbSNP: rs104893878
rs104893878
17 0.744 0.179 4 89835580 missense variant C/G snp 0.010 1.000 1 2012 2012
dbSNP: rs10938397
rs10938397
16 0.846 0.179 4 45180510 intergenic variant A/G snp 0.38 0.010 1.000 1 2013 2013
dbSNP: rs11150556
rs11150556
2 16 83236936 intron variant T/C snp 0.51 0.010 1.000 1 2015 2015
dbSNP: rs113994136
rs113994136
10 0.784 0.179 17 42329642 stop lost C/A,T snp 0.010 1.000 1 2016 2016
dbSNP: rs121908153
rs121908153
5 0.846 0.071 1 247424356 missense variant G/A,C snp 0.010 1.000 1 2014 2014
dbSNP: rs121912436
rs121912436
9 0.801 0.071 21 31667274 missense variant G/C snp 0.010 1.000 1 2014 2014
dbSNP: rs121912438
rs121912438
47 0.630 0.464 21 31667299 missense variant G/A,C snp 1.2E-05; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs148583959
rs148583959
1 19 3784376 missense variant G/A,T snp 4.7E-04; 4.2E-06 3.5E-04 0.010 1.000 1 2011 2011
dbSNP: rs1800544
rs1800544
6 0.821 0.143 10 111076745 regulatory region variant G/C snp 0.61 0.010 1.000 1 2010 2010
dbSNP: rs199840952
rs199840952
3 0.923 0.107 2 97732893 missense variant C/T snp 1.2E-05 3.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs202064075
rs202064075
1 1 16048352 missense variant G/A snp 1.5E-04 6.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs202151337
rs202151337
4 0.923 0.036 12 51806788 missense variant A/G snp 0.010 1.000 1 2015 2015
dbSNP: rs206936
rs206936
6 0.923 0.107 6 34335092 intron variant A/G snp 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2230804
rs2230804
2 10 100218126 missense variant C/T snp 0.47 0.57 0.010 1.000 1 2015 2015
dbSNP: rs2290532
rs2290532
1 3 31748090 missense variant T/C snp 0.48 0.37 0.010 1.000 1 2010 2010
dbSNP: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.010 1.000 1 2016 2016
dbSNP: rs2569191
rs2569191
3 1.000 0.071 5 140634318 intergenic variant C/A,T snp 0.58 0.010 1.000 1 2015 2015