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: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 0.865 89 1994 2019
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.100 0.727 22 1994 2019
dbSNP: rs148446907
rs148446907
AGT
3 0.925 0.080 1 230710026 synonymous variant G/A;C snv 1.2E-05 0.020 1.000 2 2000 2003
dbSNP: rs2004776
rs2004776
AGT
5 1 230712956 intron variant C/G;T snv 0.020 1.000 2 2011 2019
dbSNP: rs2493134
rs2493134
AGT
4 1 230713613 intron variant T/C snv 0.57 0.020 1.000 2 2016 2019
dbSNP: rs3789678
rs3789678
AGT
5 1.000 0.040 1 230713736 intron variant C/T snv 0.15 0.020 1.000 2 2015 2016
dbSNP: rs3889728
rs3889728
AGT
2 1.000 0.120 1 230713085 intron variant C/T snv 0.24 0.020 1.000 2 2015 2019
dbSNP: rs5049
rs5049
AGT
3 1.000 0.040 1 230714337 intron variant C/T snv 0.16 0.020 1.000 2 2011 2013
dbSNP: rs5051
rs5051
AGT
5 0.882 0.160 1 230714126 intron variant C/A;G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs7539020
rs7539020
AGT
3 1.000 0.040 1 230713444 intron variant C/T snv 0.43 0.020 1.000 2 2015 2016
dbSNP: rs1078499
rs1078499
AGT
1 1 230713350 intron variant A/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs11122577
rs11122577
AGT
2 1.000 0.120 1 230711810 intron variant C/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2067853
rs2067853
AGT
5 0.851 0.160 1 230702512 downstream gene variant G/A snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs2148582
rs2148582
AGT
2 1 230714053 intron variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs2493132
rs2493132
AGT
1 1 230707811 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3789679
rs3789679
AGT
4 0.925 0.120 1 230713948 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5050
rs5050
AGT
7 0.827 0.200 1 230714140 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs7079
rs7079
AGT
1 1 230702585 3 prime UTR variant G/T snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs762079672
rs762079672
AGT
4 0.882 0.040 1 230710211 missense variant C/T snv 4.0E-06 0.010 1.000 1 1999 1999