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: 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: rs9470080
rs9470080
13 0.827 0.080 6 35678658 intron variant T/A;C snv 0.020 1.000 2 2018 2019
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: 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: 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: 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
dbSNP: rs10848635
rs10848635
4 0.882 0.080 12 2207029 intron variant T/A;C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs10988134
rs10988134
4 0.925 0.080 9 128833128 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs10997871
rs10997871
3 0.925 0.080 10 67913178 intron variant T/C snv 4.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs10997875
rs10997875
4 0.882 0.080 10 67920067 downstream gene variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11030101
rs11030101
10 0.763 0.160 11 27659197 5 prime UTR variant A/T snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs11030104
rs11030104
12 0.790 0.240 11 27662970 intron variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1106634
rs1106634
5 0.851 0.080 8 20208538 intron variant G/A;C;T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs11111
rs11111
5 0.882 0.080 5 37814000 3 prime UTR variant T/C snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11636753
rs11636753
4 0.882 0.120 15 78636604 intron variant G/T snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs11754661
rs11754661
6 0.851 0.120 6 150885942 intron variant G/A;T snv 0.010 1.000 1 2016 2016