DisGeNET - a database of gene-disease associations

Cone Dystrophy, C0730290

Variant: rs61755766 ×

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:

rs61755766

rs61755766

PRPH2

0.010

GeneticVariation

BEFREE

Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.

1997