DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Vertical Talus ×

Variant: rs397507444 ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397507444

rs397507444

MTHFR

CUI:	C0240912
Disease:	Vertical Talus

Vertical Talus

0.010

GeneticVariation

BEFREE

To our knowledge, there are no previous reports assessing the correlation between the MTHFR A1298C variant and CVT.

2013