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: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 < 0.001 1 2015 2015
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2010 2016
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2007 2014
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
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: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 1.000 2 2006 2018
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2010 2019
dbSNP: rs10830963
rs10830963
27 0.776 0.400 11 92975544 intron variant C/G snv 0.22 0.010 1.000 1 2019 2019
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: 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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
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: rs13702
rs13702
LPL
7 0.925 0.160 8 19966981 3 prime UTR variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs1431648262
rs1431648262
2 8 26756585 3 prime UTR variant G/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs150924946
rs150924946
5 0.882 0.120 1 156135271 missense variant A/G snv 4.8E-04 1.6E-04 0.010 1.000 1 2017 2017
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: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 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: 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: rs1799904
rs1799904
2 1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2007 2007
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: rs1917760
rs1917760
1 7 143262206 intron variant G/A;T snv 1.8E-02 0.010 1.000 1 2009 2009