DisGeNET - a database of gene-disease associations

rs397507444, MTHFR

N. diseases: 306

Disease: Cardiovascular Diseases ×

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.

Cardiovascular Diseases

CUI:	C0007222
Disease:	Cardiovascular Diseases

711

0.405

0.880

1

11794407

missense variant

T/G

snv

0.100

0.917

2000

2019