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: rs2331841
rs2331841
5 1.000 0.080 18 60161404 upstream gene variant G/A snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs182052
rs182052
19 0.701 0.440 3 186842993 intron variant G/A snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1431648262
rs1431648262
2 8 26756585 3 prime UTR variant G/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs553668
rs553668
8 0.807 0.160 10 111079821 3 prime UTR variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 2001 2016
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 2017 2017
dbSNP: rs763751076
rs763751076
3 0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2018 2018
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs11635252
rs11635252
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs3862434
rs3862434
3 1.000 0.080 15 90537155 intron variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2018 2018
dbSNP: rs9939609
rs9939609
FTO
98 0.559 0.720 16 53786615 intron variant T/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs267606841
rs267606841
5 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1917760
rs1917760
1 7 143262206 intron variant G/A;T snv 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs1572982
rs1572982
HFE
7 0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2015 2015
dbSNP: rs2059806
rs2059806
7 0.807 0.240 19 7166365 synonymous variant C/G;T snv 4.0E-06; 0.26 0.020 1.000 2 2015 2017