DisGeNET - a database of gene-disease associations

Bardet-Biedl syndrome 2 (disorder), C2936863

Variant: rs147030232 ×

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:

rs147030232

rs147030232

BBS2

A

0.700

GeneticVariation

CLINVAR

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

2011

dbSNP:

rs147030232

rs147030232

BBS2

A

0.700

CausalMutation

CLINVAR