DisGeNET - a database of gene-disease associations

rs869320639, LRP6;BCL2L14

N. diseases: 3

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.

Clinodactyly

CUI:	C4551485
Disease:	Clinodactyly

18

1.000

12

12165232

missense variant

C/T

snv

0.700

Reduced number of teeth

CUI:	C4024202
Disease:	Reduced number of teeth

11

1.000

12

12165232

missense variant

C/T

snv

0.700

Tooth agenesis

CUI:	C4083050
Disease:	Tooth agenesis

7

1.000

12

12165232

missense variant

C/T

snv

0.700