DisGeNET - a database of gene-disease associations

RETINITIS PIGMENTOSA 3, C1845667

Variant: rs1569237077 ×

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:

rs1569237077

RPGR

0.700

CausalMutation

CLINVAR

RPGR mutation analysis and disease: an update.

17195164

2007

dbSNP:

rs1569237077

RPGR

0.700

CausalMutation

CLINVAR

Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.

11754050

2001

dbSNP:

rs1569237077

RPGR

0.700

CausalMutation

CLINVAR

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

10932196

2000