DisGeNET - a database of gene-disease associations

Bardet-Biedl Syndrome, C0752166

Variant: rs1555202806 ×

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:

rs1555202806

BBS10

0.700

CausalMutation

CLINVAR

Bardet-Biedl Syndrome.

27385962

2016

dbSNP:

rs1555202806

BBS10

0.700

CausalMutation

CLINVAR

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

20805367

2010

dbSNP:

rs1555202806

BBS10

0.700

CausalMutation

CLINVAR

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

16582908

2006