DisGeNET - a database of gene-disease associations

Retinitis Pigmentosa, C0035334

Variant: rs200946638 ×

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:

rs200946638

RHO

0.710

GeneticVariation

BEFREE

For example, three retinitis pigmentosa pedigrees were solved by identifying VUS which showed low expression levels (p.G18D, p.G101V, and p.P180T).

30977563

2019

dbSNP:

rs200946638

RHO

0.710

CausalMutation

CLINVAR