DisGeNET - a database of gene-disease associations

Bifid Nose With Or Without Anorectal And Renal Anomalies, C2750433

Variant: rs121912610 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912610

rs121912610

FREM1

0.800

GeneticVariation

UNIPROT

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

2009

dbSNP:

rs121912610

rs121912610

FREM1

T

0.800

CausalMutation

CLINVAR