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: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0011265
Disease: Presenile dementia
Presenile dementia 		0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		0.010 < 0.001 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1167791
Disease: Skin toxicity
Skin toxicity 		0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0.010 1.000 1 2006 2006
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		0.010 < 0.001 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2007 2007
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 1.000 1 2002 2002
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.010 < 0.001 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.010 1.000 1 2004 2004
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0677659
Disease: Gastro-esophageal reflux disease with esophagitis
Gastro-esophageal reflux disease with esophagitis 		0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
MTHFR
0.405 0.880 1 11794407 missense variant T/G snv
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.010 1.000 1 2014 2014