DisGeNET - a database of gene-disease associations

Heterotaxy Syndrome, C3178805

Variant: rs145119918 ×

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:

rs145119918

rs145119918

MMP21

A

0.700

GeneticVariation

CLINVAR

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

2015