DisGeNET - a database of gene-disease associations

Source: BEFREE

Variant: rs1217691063 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C1332206
Disease:	Adult Lymphoma

Adult Lymphoma

0.020

1.000

2004

2017

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0278877
Disease:	Adult Meningioma

Adult Meningioma

0.010

1.000

2013

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0220605
Disease:	Adult Non-Hodgkin Lymphoma

Adult Non-Hodgkin Lymphoma

0.040

1.000

2009

2018

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C3495917
Disease:	Advanced breast cancer

Advanced breast cancer

0.010

1.000

2005

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C4688308
Disease:	Advanced Lung Non-Squamous Non-Small Cell Carcinoma

Advanced Lung Non-Squamous Non-Small Cell Carcinoma

0.010

1.000

2017

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0586323
Disease:	Alcohol Withdrawal Seizures

Alcohol Withdrawal Seizures

0.010

1.000

2006

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0001973
Disease:	Alcoholic Intoxication, Chronic

Alcoholic Intoxication, Chronic

0.030

1.000

2006

2018

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C2607914
Disease:	Allergic rhinitis (disorder)

Allergic rhinitis (disorder)

0.010

< 0.001

2016

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002170
Disease:	Alopecia

Alopecia

0.020

1.000

2008

2013

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002171
Disease:	Alopecia Areata

Alopecia Areata

0.010

1.000

2013

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0494463
Disease:	Alzheimer Disease, Late Onset

Alzheimer Disease, Late Onset

0.050

1.000

2005

2019

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002395
Disease:	Alzheimer's Disease

Alzheimer's Disease

0.100

0.840

2000

2017

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002622
Disease:	Amnesia

Amnesia

0.010

1.000

2016

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002736
Disease:	Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis

0.010

< 0.001

2017

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0522254
Disease:	Analgesic Overuse Headache

Analgesic Overuse Headache

0.010

1.000

2013

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0332853
Disease:	Anastomosis

Anastomosis

0.010

1.000

2006

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0039585
Disease:	Androgen-Insensitivity Syndrome

Androgen-Insensitivity Syndrome

0.010

1.000

2006

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002871
Disease:	Anemia

Anemia

0.030

1.000

1997

2018

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002878
Disease:	Anemia, Hemolytic

Anemia, Hemolytic

0.010

1.000

2002

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002888
Disease:	Anemia, Megaloblastic

Anemia, Megaloblastic

0.010

1.000

1997

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002895
Disease:	Anemia, Sickle Cell

Anemia, Sickle Cell

0.100

1.000

1998

2019

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002902
Disease:	Anencephaly

Anencephaly

0.040

1.000

1996

2015

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0002949
Disease:	Aneurysm, Dissecting

Aneurysm, Dissecting

0.020

1.000

2010

2016

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0017605
Disease:	Angle Closure Glaucoma

Angle Closure Glaucoma

0.040

1.000

2008

2016

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0038013
Disease:	Ankylosing spondylitis

Ankylosing spondylitis

0.010

1.000

2013