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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C2673517
Disease: PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO
PORPHYRIA CUTANEA TARDA, 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: rs747739169
rs747739169
HFE ; LOC108783645
1.000 0.080 6 26090960 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 0
dbSNP: rs749553271
rs749553271
HFE ; LOC108783645
1.000 0.080 6 26092960 stop gained G/T snv 2.1E-05
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.700 0
dbSNP: rs765804978
rs765804978
HFE ; LOC108783645
1.000 0.080 6 26091519 frameshift variant CC/- del
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		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: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.800 1.000 1 2011 2011
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: rs12346
rs12346
HFE
0.925 0.120 6 26096818 3 prime UTR variant T/C snv 0.76
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0003467
Disease: Anxiety
Anxiety 		0.700 1.000 1 2018 2018
dbSNP: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		0.700 1.000 1 2013 2013
dbSNP: rs1572982
rs1572982
HFE
0.827 0.200 6 26094139 intron variant G/A;T snv 0.52; 8.0E-06
CUI: C0018099
Disease: Gout
Gout 		0.700 1.000 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: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2011 2011
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016