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: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003467
Disease: Anxiety
Anxiety 		0.020 1.000 2 2008 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.020 1.000 2 2008 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 1.000 3 2000 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.020 0.500 2 2002 2007
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003864
Disease: Arthritis
Arthritis 		0.080 0.875 8 2002 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.040 1.000 4 2006 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 1.000 3 2000 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0004604
Disease: Back Pain
Back Pain 		0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 < 0.001 1 2008 2008
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.030 1.000 3 2005 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0869532
Disease: Beta thalassemia minor
Beta thalassemia minor 		0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		0.020 1.000 2 2005 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0878520
Disease: beta Thalassemia, heterozygous
beta Thalassemia, heterozygous 		0.010 1.000 1 2001 2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		0.030 1.000 3 2005 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		0.010 1.000 1 2001 2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 1.000 6 2006 2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0553730
Disease: Calcium pyrophosphate deposition disease
Calcium pyrophosphate deposition disease 		0.010 < 0.001 1 2007 2007
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2009 2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		0.010 1.000 1 2006 2006
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 1.000 1 2011 2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.010 1.000 1 2012 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 0.500 2 1998 2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2005 2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.030 1.000 3 2001 2008