DisGeNET - a database of gene-disease associations

EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL DOMINANT, C4016838

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs80358305

rs80358305

LRP5

3

0.882

0.160

11

68348188

missense variant

C/T

snv

0.700

dbSNP:

rs80358321

rs80358321

LRP5

1

1.000

11

68438451

frameshift variant

-/C

delins

0.700

dbSNP:

rs80358322

rs80358322

LRP5

2

0.925

11

68439918

splice donor variant

T/G

snv

6.5E-06; 6.5E-06

0.700