DisGeNET - a database of gene-disease associations

rs13306556, MTHFR

N. diseases: 2

Source: ALL

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Diastolic blood pressure

CUI:	C0428883
Disease:	Diastolic blood pressure

1037

1

11792053

intron variant

C/T

snv

0.10

0.700

1.000

2018

2018

Diastolic blood pressure measurement

CUI:	C1305849
Disease:	Diastolic blood pressure measurement

81

1

11792053

intron variant

C/T

snv

0.10

0.700

1.000

2018

2018