Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.760 0.857 7 1999 2012
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.100 0.947 19 1999 2019
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.100 0.800 10 1999 2011
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.100 1.000 10 2000 2015
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.020 1.000 2 2003 2008
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2008 2008
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.010 1.000 1 2004 2004
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 < 0.001 1 2013 2013
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2008 2008
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 < 0.001 1 2008 2008
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0021364
Disease: Male infertility
Male infertility 		0.010 1.000 1 2012 2012
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2002 2002
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 1.000 1 2002 2002
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		0.010 1.000 1 2006 2006
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2016 2016
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2009 2009
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 1.000 1 2010 2010
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		0.010 1.000 1 2007 2007
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.010 1.000 1 2003 2003
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0019045
Disease: Hemoglobinopathies
Hemoglobinopathies 		0.010 1.000 1 2006 2006
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2007 2007
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2010 2010
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C1276127
Disease: Sporadic porphyria cutanea tarda
Sporadic porphyria cutanea tarda 		0.010 1.000 1 2002 2002
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2005 2005