DisGeNET - a database of gene-disease associations

HETEROTAXY, VISCERAL, 8, AUTOSOMAL, C4310668

Variant: rs886037834 ×

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:

rs886037834

rs886037834

PKD1L1

0.800

GeneticVariation

UNIPROT

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

2016

dbSNP:

rs886037834

rs886037834

PKD1L1

G

0.800

CausalMutation

CLINVAR