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: rs11263654
rs11263654
1 1.000 0.120 11 69423355 upstream gene variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs11813268
rs11813268
2 0.925 0.120 10 103922538 upstream gene variant C/T snv 0.31 0.710 1.000 1 2017 2017
dbSNP: rs132793
rs132793
7 0.851 0.160 22 41667677 downstream gene variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs13376700
rs13376700
1 1.000 0.120 1 51011971 intergenic variant T/A snv 0.48 0.700 1.000 1 2017 2017
dbSNP: rs1417080
rs1417080
2 0.925 0.120 9 79515946 non coding transcript exon variant T/C snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs3118523
rs3118523
2 0.925 0.120 9 134443675 downstream gene variant G/A snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs6466135
rs6466135
2 0.925 0.120 7 106861053 upstream gene variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs7132434
rs7132434
2 0.925 0.120 12 26319629 non coding transcript exon variant A/G snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs748964
rs748964
2 0.925 0.120 9 134442243 downstream gene variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs7765284
rs7765284
1 1.000 0.120 6 85068104 intergenic variant C/A snv 0.13 0.700 1.000 1 2013 2013
dbSNP: rs7859384
rs7859384
6 0.882 0.120 9 79507370 intron variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs78971134
rs78971134
1 1.000 0.120 12 107258753 intergenic variant A/G snv 7.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.010 1.000 1 2005 2005
dbSNP: rs6713088
rs6713088
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs843711
rs843711
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1154454
rs1154454
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs3889728
rs3889728
AGT
2 1.000 0.120 1 230713085 intron variant C/T snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs1492078
rs1492078
1 1.000 0.120 3 148697390 upstream gene variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2015 2015
dbSNP: rs1800435
rs1800435
7 0.827 0.200 9 113391611 missense variant C/G snv 8.3E-02 6.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs2761016
rs2761016
2 0.925 0.120 9 113391072 intron variant T/C snv 0.59 0.010 1.000 1 2011 2011
dbSNP: rs7913447
rs7913447
1 1.000 0.120 10 72232282 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2011 2011
dbSNP: rs1760944
rs1760944
26 0.672 0.480 14 20454990 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2011 2011