DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Severe myopia ×

Variant: rs2233789 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2233789

rs2233789

RDH8

CUI:	C0271183
Disease:	Severe myopia

Severe myopia

0.010

GeneticVariation

BEFREE

SNPs RDH851 (rs2233789) and RDH8E5a (rs1644731) both did not show association with high myopia.

2010