rs397507444, MTHFR

N. diseases: 306
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hodgkin Disease
CUI: C0019829
Disease: Hodgkin Disease
148 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
Huntington Disease
CUI: C0020179
Disease: Huntington Disease
115 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2002 2002
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2000 2003
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
291 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Dementia
CUI: C0497327
Disease: Dementia
176 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Essential Tremor
CUI: C0270736
Disease: Essential Tremor
79 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
327 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Presenile dementia
CUI: C0011265
Disease: Presenile dementia
159 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
34 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Sickle Cell Trait
CUI: C0037054
Disease: Sickle Cell Trait
16 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Very Low Birth Weight
CUI: C0282666
Disease: Very Low Birth Weight
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2004 2004
Colonic Neoplasms
CUI: C0009375
Disease: Colonic Neoplasms
45 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Diplegia
CUI: C0221165
Disease: Diplegia
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Neoplasms, Second Primary
CUI: C0085183
Disease: Neoplasms, Second Primary
2 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Ovarian Hyperstimulation Syndrome
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
24 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
prothrombin gene mutation
CUI: C1260403
Disease: prothrombin gene mutation
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2005 2005
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
78 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2002 2006
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
605 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2006
leukemia
CUI: C0023418
Disease: leukemia
144 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2001 2006
Diabetes Mellitus, Insulin-Dependent
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
954 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
DiGeorge Syndrome
CUI: C0012236
Disease: DiGeorge Syndrome
7 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Idiopathic Hypoparathyroidism
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
5 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Lesion of brain
CUI: C0221505
Disease: Lesion of brain
9 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Shprintzen-Goldberg syndrome
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
21 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2006 2006
Adenoma of large intestine
CUI: C1302401
Disease: Adenoma of large intestine
213 0.405 0.880 1 11794407 missense variant T/G snv 0.040 1.000 4 2003 2007