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 0.800 0.900 20 1997 2018
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.050 0.600 5 1997 2013
dbSNP: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2011
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.020 1.000 2 2005 2011
dbSNP: rs5049
rs5049
AGT
3 1.000 0.040 1 230714337 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
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