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:	C0042974
Disease:	von Willebrand Disease

von Willebrand Disease

0.010

1.000

2010

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0032969
Disease:	Pregnancy in Diabetics

Pregnancy in Diabetics

0.010

1.000

2001

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C1827820
Disease:	Fast acetylator due to N-acetyltransferase enzyme variant

Fast acetylator due to N-acetyltransferase enzyme variant

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:	C0940937
Disease:	precancerous lesions

precancerous lesions

0.010

1.000

2019

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0038362
Disease:	Stomatitis

Stomatitis

0.010

1.000

2012

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0677949
Disease:	Stage III Colorectal Cancer

Stage III Colorectal Cancer

0.010

1.000

2011

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:	C0023890
Disease:	Liver Cirrhosis

Liver Cirrhosis

0.010

1.000

2009

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0848676
Disease:	Subfertility, Male

Subfertility, Male

0.010

< 0.001

2012

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0023646
Disease:	Lichen Planus

Lichen Planus

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:	C3875381
Disease:	Homozygous methylenetetrahydrofolate reductase mutation

Homozygous methylenetetrahydrofolate reductase mutation

0.010

1.000

2015

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0751007
Disease:	Intracranial Atherosclerosis

Intracranial Atherosclerosis

0.010

1.000

2018

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0241950
Disease:	Intestinal infarction

Intestinal infarction

0.010

1.000

2009

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0278987
Disease:	Metastatic non-small cell lung cancer

Metastatic non-small cell lung cancer

0.010

1.000

2004

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C4511452
Disease:	Sporadic Parkinson disease

Sporadic Parkinson disease

0.010

1.000

2014

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C1861305
Disease:	TARSAL-CARPAL COALITION SYNDROME

TARSAL-CARPAL COALITION SYNDROME

0.010

< 0.001

2011

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0035439
Disease:	Rheumatic Heart Disease

Rheumatic Heart Disease

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:	C0033626
Disease:	Protein Deficiency

Protein Deficiency

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:	C3825293
Disease:	Headache in children

Headache in children

0.010

1.000

2018

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0036421
Disease:	Systemic Scleroderma

Systemic Scleroderma

0.010

1.000

2009

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0086133
Disease:	Depressive Syndrome

Depressive Syndrome

0.010

1.000

2009

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0263361
Disease:	Psoriasis vulgaris

Psoriasis vulgaris

0.010

1.000

2012

dbSNP:

rs1217691063

MTHFR

0.330

0.920

11796309

missense variant

A/G

snv

4.0E-06

7.0E-06

CUI:	C0848558
Disease:	Hypospadias

Hypospadias

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:	C1762616
Disease:	Meningioma, benign, no ICD-O subtype

Meningioma, benign, no ICD-O subtype

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:	C0020443
Disease:	Hypercholesterolemia

Hypercholesterolemia

0.010

1.000

2006