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 0.080 1.000 8 1997 2013
dbSNP: rs1161457931
rs1161457931
TMPRSS6
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.020 1.000 2 2012 2014
dbSNP: rs199474387
rs199474387
HLA-A
6 0.807 0.240 6 29942870 missense variant G/C;T snv 0.020 1.000 2 1998 2002
dbSNP: rs786204108
rs786204108
TFR2
1 1.000 0.080 7 100626866 missense variant C/G;T snv 1.3E-05 0.700 1.000 2 2013 2015
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 2013
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: rs1168921011
rs1168921011
MYBPH
1 1.000 0.080 1 203171152 missense variant C/A;T snv 0.010 1.000 1 1997 1997
dbSNP: rs1374259518
rs1374259518
HAMP
3 0.882 0.080 19 35284995 missense variant T/C snv 0.010 1.000 1 2004 2004
dbSNP: rs137852310
rs137852310
ALAS2
3 0.882 0.120 X 55021095 missense variant A/G snv 0.010 1.000 1 1999 1999
dbSNP: rs1397742363
rs1397742363
MAP3K8
1 1.000 0.080 10 30451716 missense variant A/G snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs140080192
rs140080192
HFE ; LOC108783645
1 1.000 0.080 6 26092897 missense variant G/A;C snv 3.6E-03 0.010 1.000 1 2012 2012
dbSNP: rs200249435
rs200249435
TFR2
5 0.827 0.200 7 100641071 missense variant G/A;C snv 4.2E-06; 8.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs2111833
rs2111833
TMPRSS6
2 1.000 0.080 22 37084757 synonymous variant C/G;T snv 0.31 0.010 1.000 1 2015 2015
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 2014 2014
dbSNP: rs35201683
rs35201683
HFE
12 0.732 0.360 6 26094205 stop gained C/A;T snv 1.4E-03 0.010 1.000 1 2001 2001
dbSNP: rs387907377
rs387907377
SLC40A1
3 0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs763569821
rs763569821
MUC1
4 0.851 0.160 1 155188197 missense variant T/C snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs765166469
rs765166469
UBL5
1 1.000 0.080 19 9829976 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs765545512
rs765545512
HFE
6 0.827 0.240 6 26093226 missense variant G/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs773624350
rs773624350
HFE ; LOC108783645
1 1.000 0.080 6 26092887 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs779021719
rs779021719
HAMP
5 0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs780246573
rs780246573
HFE ; LOC108783645
12 0.732 0.360 6 26092860 stop gained C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs781959255
rs781959255
HJV
2 0.925 0.080 1 146019321 missense variant C/T snv 8.1E-06 0.010 1.000 1 2011 2011