DisGeNET - a database of gene-disease associations

Primary immune deficiency disorder, C0398686

Variant: rs752183065 ×

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:

rs752183065

rs752183065

RIPK1 ; LOC107986556

C

0.700

CausalMutation

CLINVAR

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.

2019