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: rs28934596
rs28934596
HFE ; LOC108783645
1 1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06 0.800 1.000 18 1996 2008
dbSNP: rs28934597
rs28934597
HFE ; LOC108783645
2 0.925 0.080 6 26091041 missense variant G/C snv 1.2E-05 7.0E-06 0.810 1.000 18 1996 2008
dbSNP: rs121434375
rs121434375
HJV
4 0.851 0.080 1 146019672 stop gained T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs199916850
rs199916850
HFE ; LOC108783645
2 0.925 0.080 6 26091521 missense variant T/C snv 8.0E-06 1.4E-05 0.010 1.000 1 2008 2008
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
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: rs56073403
rs56073403
AGT
3 0.882 0.160 1 230710009 missense variant T/C snv 7.2E-04 6.8E-04 0.010 1.000 1 2011 2011
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: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.760 0.857 7 1999 2012
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: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs4820268
rs4820268
TMPRSS6
14 0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs492602
rs492602
FUT2 ; LOC105447645
7 0.925 0.120 19 48703160 synonymous variant A/G snv 0.38 0.45 0.010 1.000 1 2013 2013
dbSNP: rs6564851
rs6564851 		5 0.882 0.120 16 81230992 intergenic variant T/G snv 0.48 0.010 1.000 1 2013 2013
dbSNP: rs1424266770
rs1424266770
CASP3
10 0.790 0.200 4 184632307 missense variant C/G snv 8.0E-06 0.020 1.000 2 2011 2014
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: rs1208663703
rs1208663703
TMPRSS6
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-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: rs3817672
rs3817672
TFRC
4 0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43 0.010 1.000 1 2014 2014
dbSNP: rs422982
rs422982
SLC11A2
2 0.925 0.200 12 51012571 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs733655
rs733655
TMPRSS6
6 0.827 0.240 22 37099011 intron variant T/C snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs781516027
rs781516027
HFE ; LOC108783645
3 0.882 0.080 6 26092744 missense variant C/G;T snv 8.0E-06; 3.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2015 2015
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.700 1.000 1 2015 2015
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