DisGeNET - a database of gene-disease associations

IMMUNODEFICIENCY 47, C4310819

Variant: rs878853276 ×

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:

rs878853276

rs878853276

ATP6AP1

0.800

GeneticVariation

UNIPROT

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

2016

dbSNP:

rs878853276

rs878853276

ATP6AP1

C

0.800

CausalMutation

CLINVAR