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: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.020 1.000 2 2014 2017
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs3844942
rs3844942
3 0.882 0.120 4 189571800 intergenic variant T/C snv 0.010 < 0.001 1 2017 2017
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs8021276
rs8021276
2 0.925 0.080 14 92110162 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.020 1.000 2 2011 2012
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs12075
rs12075
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs1682111
rs1682111
13 0.742 0.240 2 54200842 intron variant A/T snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs843645
rs843645
5 0.827 0.120 2 54247527 intron variant T/A;G snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs843720
rs843720
10 0.752 0.280 2 54283523 intron variant T/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs10020432
rs10020432
AFP
2 0.925 0.080 4 73455883 3 prime UTR variant A/G snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs2298839
rs2298839
AFP
2 0.925 0.080 4 73445127 splice region variant A/G;T snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs6834059
rs6834059
AFP
2 0.925 0.080 4 73435958 intron variant C/G snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.010 1.000 1 2005 2005
dbSNP: rs56073403
rs56073403
AGT
3 0.882 0.160 1 230710009 missense variant T/C snv 7.2E-04 6.8E-04 0.010 1.000 1 2005 2005
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2005 2005
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2016 2016
dbSNP: rs2241880
rs2241880
37 0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44 0.010 1.000 1 2019 2019
dbSNP: rs510432
rs510432
11 0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs548234
rs548234
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.010 1.000 1 2019 2019
dbSNP: rs2679757
rs2679757
2 0.925 0.080 8 102858590 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs4646038
rs4646038
2 0.925 0.080 1 15506705 intron variant C/T snv 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs4656942
rs4656942
4 0.851 0.160 1 160861258 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs485618
rs485618
4 0.851 0.160 1 160830690 3 prime UTR variant T/A;C;G snv 0.54 0.010 1.000 1 2015 2015