Source: ALL
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: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.100 0.923 13 1998 2017
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.030 1.000 3 1998 2002
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.030 1.000 3 2001 2003
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.030 1.000 3 2001 2003
dbSNP: rs11558492
rs11558492
GNPAT
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 0.500 2 2017 2017
dbSNP: rs104893662
rs104893662
SLC40A1
4 0.851 0.080 2 189571799 missense variant T/A;G snv 0.010 1.000 1 2003 2003
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
8 0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs121434375
rs121434375
HJV
4 0.851 0.080 1 146019672 stop gained T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs1402522059
rs1402522059
CAT
1 1.000 0.080 11 34449312 missense variant C/G;T snv 4.0E-06 0.010 < 0.001 1 1997 1997
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs143396368
rs143396368
FXN
7 0.807 0.200 9 69072623 missense variant G/A;C snv 3.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1449300685
rs1449300685
SLC40A1
2 0.925 0.080 2 189565581 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs146519482
rs146519482
HFE ; LOC108783645
2 0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04 0.010 1.000 1 2002 2002
dbSNP: rs1830084
rs1830084
TF ; SRPRB ; LOC105374116
4 0.882 0.160 3 133789620 3 prime UTR variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2280673
rs2280673
RAB6B
3 0.882 0.160 3 133839310 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2858996
rs2858996
HFE
2 0.925 0.080 6 26093798 intron variant G/A;C;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs368420430
rs368420430
SLC40A1
4 0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs41562916
rs41562916
HLA-B ; HLA-C
1 1.000 0.080 6 31271130 missense variant A/C snv 0.010 1.000 1 1998 1998
dbSNP: rs537002912
rs537002912
HFE
2 0.925 0.080 6 26093145 missense variant A/G snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs707889
rs707889
HFE
6 0.827 0.200 6 26095703 3 prime UTR variant G/A;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs748882267
rs748882267
HFE
2 0.925 0.080 6 26093156 missense variant C/G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs779359707
rs779359707
TFRC
2 0.925 0.080 3 196073990 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008