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: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.100 0.946 167 1997 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.100 0.886 79 1997 2019
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 1.000 10 2000 2015
dbSNP: rs1275561861
rs1275561861
HLA-A
23 0.672 0.360 6 29944350 missense variant G/A snv 0.060 0.833 6 2004 2013
dbSNP: rs765545512
rs765545512
HFE
6 0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 0.030 1.000 3 2011 2018
dbSNP: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.030 1.000 3 2001 2004
dbSNP: rs11558492
rs11558492
GNPAT
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.020 1.000 2 2015 2017
dbSNP: rs11568350
rs11568350
SLC40A1
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.020 1.000 2 2004 2007
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.020 1.000 2 2001 2003
dbSNP: rs368420430
rs368420430
SLC40A1
4 0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06 0.020 1.000 2 2004 2012
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.020 1.000 2 2001 2003
dbSNP: rs855791
rs855791
TMPRSS6
38 0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06 0.020 1.000 2 2012 2012
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: rs111241405
rs111241405
ERFE
2 0.925 0.120 2 238164165 missense variant G/T snv 4.7E-02 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2012 2012
dbSNP: rs11568346
rs11568346
SLC40A1
1 1.000 0.040 2 189561913 missense variant T/C snv 1.2E-03 4.9E-03 0.010 1.000 1 2008 2008
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs121434374
rs121434374
HJV
4 0.851 0.080 1 146018395 stop gained G/C;T snv 1.2E-05; 4.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs121434375
rs121434375
HJV
4 0.851 0.080 1 146019672 stop gained T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs121918365
rs121918365
SLC11A2
3 0.882 0.080 12 50992810 missense variant C/G snv 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs121918366
rs121918366
SLC11A2
5 0.827 0.160 12 50992291 missense variant G/A;C snv 0.010 1.000 1 2006 2006
dbSNP: rs121918367
rs121918367
SLC11A2
5 0.827 0.080 12 50999214 missense variant C/A;T snv 6.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs137852311
rs137852311
ALAS2
3 0.882 0.120 X 55014830 missense variant G/A;T snv 0.010 1.000 1 2008 2008