DisGeNET - a database of gene-disease associations

Bardet-Biedl syndrome 2 (disorder), C2936863

Variant: rs567573386 ×

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:

rs567573386

BBS2

0.700

GeneticVariation

CLINVAR

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

27659767

2017

dbSNP:

rs567573386

BBS2

0.700

GeneticVariation

CLINVAR

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

25999675

2015

dbSNP:

rs567573386

BBS2

0.700

GeneticVariation

CLINVAR

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

21344540

2011