DisGeNET - a database of gene-disease associations

rs201063733, BBS2

N. diseases: 2

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Bardet-Biedl syndrome 2 (disorder)

CUI:	C2936863
Disease:	Bardet-Biedl syndrome 2 (disorder)

53

0.925

0.120

16

56497063

stop gained

G/C

snv

8.0E-06

7.0E-06

0.700

1.000

2015

2017

Bardet-Biedl Syndrome

CUI:	C0752166
Disease:	Bardet-Biedl Syndrome

163

0.925

0.120

16

56497063

stop gained

G/C

snv

8.0E-06

7.0E-06

0.700