Source: BEFREE

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: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0162532
Disease: Variegate Porphyria
Variegate Porphyria 		0.710 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.010 < 0.001 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		0.010 < 0.001 1 2003 2003
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2000 2000
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.010 < 0.001 1 2016 2016
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0751955
Disease: Brain Infarction
Brain Infarction 		0.010 1.000 1 2001 2001
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.010 1.000 1 2014 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		0.010 1.000 1 2009 2009
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002871
Disease: Anemia
Anemia 		0.010 < 0.001 1 2005 2005
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		0.010 1.000 1 2003 2003
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0019114
Disease: Hemosiderosis
Hemosiderosis 		0.010 1.000 1 2001 2001
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		0.010 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0085293
Disease: Hepatitis E
Hepatitis E 		0.010 1.000 1 2001 2001
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		0.010 1.000 1 2003 2003
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 < 0.001 1 2013 2013
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 1.000 1 2015 2015
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.010 1.000 1 2010 2010
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		0.010 1.000 1 1999 1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0033802
Disease: Pseudogout
Pseudogout 		0.010 1.000 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2000 2000
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		0.010 1.000 1 2002 2002
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		0.010 1.000 1 2002 2002