DisGeNET - a database of gene-disease associations

Cleft Lip with or without Cleft Palate, C0810364

Variant: rs3832406 ×

Source: ALL

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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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs3832406

rs3832406

MTHFD1L

0.010

GeneticVariation

BEFREE

The TDT analysis initially showed that the rs3832406 polymorphism was associated with isolated cleft lip with or without cleft palate.

2012