DisGeNET - a database of gene-disease associations

Autosomal Recessive Polycystic Kidney Disease, C0085548

Variant: rs1554194511 ×

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:

rs1554194511

rs1554194511

PKHD1

T

0.700

GeneticVariation

CLINVAR

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.

2014

dbSNP:

rs1554194511

rs1554194511

PKHD1

T

0.700

CausalMutation

CLINVAR