DisGeNET - a database of gene-disease associations

IMMUNODEFICIENCY, COMMON VARIABLE, 1, C3149378

Variant: rs1559035937 ×

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:

rs1559035937

ICOS

0.700

GeneticVariation

CLINVAR

Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients.

19380800

2009

dbSNP:

rs1559035937

ICOS

0.700

GeneticVariation

CLINVAR

Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency.

12577056

2003

dbSNP:

rs1559035937

ICOS

0.700

GeneticVariation

CLINVAR

ICOS is critical for CD40-mediated antibody class switching.

11343122

2001