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: rs4986938
rs4986938
35 0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33 0.020 1.000 2 2011 2018
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.020 1.000 2 2007 2009
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.020 1.000 2 2014 2015
dbSNP: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.020 1.000 2 2012 2014
dbSNP: rs7766029
rs7766029
7 0.851 0.080 6 88137716 downstream gene variant T/C snv 0.51 0.020 1.000 2 2009 2019
dbSNP: rs776943620
rs776943620
ACE
7 0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05 0.020 1.000 2 2009 2013
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.020 1.000 2 2008 2013
dbSNP: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2018 2019
dbSNP: rs1003880422
rs1003880422
TH
2 0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1013940
rs1013940
6 0.827 0.160 2 107992192 missense variant A/G snv 9.3E-02 7.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs10223646
rs10223646
DSE
4 0.882 0.080 6 116296236 intron variant C/T snv 0.41 0.010 1.000 1 2020 2020
dbSNP: rs1033656351
rs1033656351
7 0.827 0.160 12 121232997 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs10410544
rs10410544
6 0.827 0.120 19 38894892 intron variant T/C snv 0.68 0.67 0.010 1.000 1 2013 2013
dbSNP: rs1042173
rs1042173
14 0.763 0.320 17 30197993 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1044397
rs1044397
7 0.851 0.160 20 63349752 synonymous variant C/T snv 0.48 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2012 2012
dbSNP: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1051730
rs1051730
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2013 2013
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 < 0.001 1 2018 2018