Source: CLINVAR

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: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.900 0.976 30 1996 2019
dbSNP: rs111033563
rs111033563
HFE ; LOC108783645
0.776 0.240 6 26092916 missense variant A/C snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.810 1.000 0 1996 2008
dbSNP: rs28934597
rs28934597
HFE ; LOC108783645
0.925 0.080 6 26091041 missense variant G/C snv 1.2E-05 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.810 1.000 0 1996 2008
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 0.960 20 1996 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 0.991 13 1996 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.800 0.973 5 1997 2019
dbSNP: rs111033558
rs111033558
HFE
1.000 0.080 6 26093215 missense variant G/C;T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 0 1996 2008
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.800 0.882 0 2003 2016
dbSNP: rs28934595
rs28934595
HFE ; LOC108783645
0.925 0.160 6 26091354 missense variant A/C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 0 1996 2008
dbSNP: rs28934596
rs28934596
HFE ; LOC108783645
1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.800 1.000 0 1996 2008
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.720 1.000 0 2003 2010
dbSNP: rs146519482
rs146519482
HFE ; LOC108783645
0.925 0.080 6 26091475 stop gained G/C;T snv 4.5E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.710 1.000 1 2000 2002
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 0 1999 1999
dbSNP: rs797045145
rs797045145
HFE ; LOC108783645
0.807 0.240 6 26091479 stop gained G/A snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 1 2000 2000
dbSNP: rs1554154042
rs1554154042
HFE ; LOC108783645
1.000 0.080 6 26092828 frameshift variant A/- delins
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 0
dbSNP: rs1561939338
rs1561939338
HFE ; LOC108783645
1.000 0.080 6 26090839 splice acceptor variant AGGT/TGGAGTC delins
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) 		0.700 0
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 		0.700 0
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C1856170
Disease: ALZHEIMER DISEASE, SUSCEPTIBILITY TO
ALZHEIMER DISEASE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C2673518
Disease: PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO
PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3150862
Disease: HEMOCHROMATOSIS, JUVENILE, DIGENIC
HEMOCHROMATOSIS, JUVENILE, DIGENIC 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C2673520
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7 (finding) 		0.700 0
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3280096
Disease: TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2
TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2 		0.700 0