DisGeNET - a database of gene-disease associations

RETINITIS PIGMENTOSA 1, C0220701

Variant: rs104894082 ×

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:

rs104894082

rs104894082

RP1

0.710

GeneticVariation

BEFREE

Of the 241 patients, all were screened for the most common RP1 mutation (Arg677Ter), and 10 patients were found to have this mutation.

2001

dbSNP:

rs104894082

rs104894082

RP1

T

0.710

CausalMutation

CLINVAR