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: rs2032451
rs2032451
HFE ; LOC108783645
6 26091942 intron variant G/T snv 0.10
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2017 2017
dbSNP: rs2032451
rs2032451
HFE ; LOC108783645
6 26091942 intron variant G/T snv 0.10
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2017 2017
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs79220007
rs79220007
HFE
6 26098246 3 prime UTR variant T/C snv 3.8E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs9366637
rs9366637
HFE ; LOC108783645
1.000 0.040 6 26088870 intron variant C/T snv 0.10
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.020 0.500 2 2011 2013
dbSNP: rs1221576286
rs1221576286
HFE ; LOC108783645
1.000 0.040 6 26092949 missense variant T/C snv 4.0E-06
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant 		0.010 1.000 1 2006 2006
dbSNP: rs1318067141
rs1318067141
HFE ; LOC108783645
1.000 0.040 6 26092955 missense variant T/C snv 4.0E-06
CUI: C1851316
Disease: Iron Overload, Autosomal Dominant
Iron Overload, Autosomal Dominant 		0.010 1.000 1 2006 2006
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
0.925 0.040 6 26092879 missense variant G/T snv
CUI: C0018801
Disease: Heart failure
Heart failure 		0.010 1.000 1 2010 2010
dbSNP: rs1337916669
rs1337916669
HFE ; LOC108783645
0.925 0.040 6 26092879 missense variant G/T snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2010 2010
dbSNP: rs368122334
rs368122334
HFE
1.000 0.040 6 26094198 missense variant G/A;C snv 4.0E-06; 4.0E-06; 1.6E-05
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.010 1.000 1 2011 2011
dbSNP: rs56275179
rs56275179
HFE ; LOC108783645
1.000 0.040 6 26089112 intron variant G/C;T snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2019 2019
dbSNP: rs61472021
rs61472021
HFE ; LOC108783645
1.000 0.040 6 26089797 intron variant T/C snv 0.17
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 1.000 1 2017 2017
dbSNP: rs61472021
rs61472021
HFE ; LOC108783645
1.000 0.040 6 26089797 intron variant T/C snv 0.17
CUI: C0008074
Disease: Child Development Disorders, Pervasive
Child Development Disorders, Pervasive 		0.700 1.000 1 2017 2017
dbSNP: rs772608361
rs772608361
HFE ; LOC108783645
1.000 0.040 6 26087503 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 1.000 1 2013 2013
dbSNP: rs772608361
rs772608361
HFE ; LOC108783645
1.000 0.040 6 26087503 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2013 2013
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 18 1996 2008
dbSNP: rs149342416
rs149342416
HFE ; LOC108783645
1.000 0.080 6 26087458 missense variant G/C snv 6.9E-04 7.0E-04
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.700 1.000 18 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 18 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 18 1996 2008
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 2 2000 2002
dbSNP: rs1156920296
rs1156920296
HFE ; LOC108783645
0.925 0.080 6 26092918 missense variant G/A snv
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		0.010 1.000 1 2015 2015
dbSNP: rs1156920296
rs1156920296
HFE ; LOC108783645
0.925 0.080 6 26092918 missense variant G/A snv
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2015 2015