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: 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: 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: 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: 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: 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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2007 2007
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: 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: rs267606841
rs267606841
5 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2013 2013
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: rs5767700
rs5767700
1 22 46216775 intron variant T/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs7076156
rs7076156
3 0.925 0.120 10 62655424 missense variant A/C;G snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs771065515
rs771065515
2 1 156115240 missense variant A/G snv 2.5E-05 7.0E-06 0.010 1.000 1 2017 2017
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: 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: 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: rs60662302
rs60662302
5 0.882 0.200 1 156138593 missense variant G/A snv 2.1E-04 7.7E-04 0.010 1.000 1 2017 2017