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: 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: 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: rs28934597
rs28934597
HFE ; LOC108783645
2 0.925 0.080 6 26091041 missense variant G/C snv 1.2E-05 7.0E-06 0.010 1.000 1 1999 1999
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: 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: 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: 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: rs80338880
rs80338880
TFR2
12 0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06 0.030 1.000 3 2001 2003
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: rs34242818
rs34242818
TFR2
2 0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02 0.010 1.000 1 2005 2005
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: rs80338886
rs80338886
TFR2
3 0.882 0.080 7 100628228 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs41303501
rs41303501
TFR2
3 0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs80338882
rs80338882
TFR2
4 0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs80338891
rs80338891
TFR2
4 0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs11568350
rs11568350
SLC40A1
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2007 2007
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: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.100 0.800 10 1999 2011
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: 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: 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