RPGRIP1, RPGR interacting protein 1, 57096

N. diseases: 121; N. variants: 36
Disease: LEBER CONGENITAL AMAUROSIS 6 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566674809
rs1566674809
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		C 0.700 CausalMutation CLINVAR Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320 2018
dbSNP: rs759940113
rs759940113
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. 30576320 2018
dbSNP: rs75459701
rs75459701
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666 2015
dbSNP: rs61751268
rs61751268
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		0.700 GeneticVariation UNIPROT C2 domains as protein-protein interaction modules in the ciliary transition zone. 24981858 2014
dbSNP: rs374188857
rs374188857
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		G 0.700 GeneticVariation CLINVAR Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 23105016 2013
dbSNP: rs75459701
rs75459701
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. 20079931 2010
dbSNP: rs61751268
rs61751268
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		0.700 GeneticVariation UNIPROT Molecular characterization of Leber congenital amaurosis in Koreans. 18682808 2008
dbSNP: rs61751268
rs61751268
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		0.700 GeneticVariation UNIPROT Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis. 17554762 2007
dbSNP: rs61751268
rs61751268
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		0.700 GeneticVariation UNIPROT Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential. 17306875 2007
dbSNP: rs374188857
rs374188857
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		G 0.700 GeneticVariation CLINVAR Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 11528500 2001
dbSNP: rs61751268
rs61751268
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		0.700 GeneticVariation UNIPROT Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. 11528500 2001
dbSNP: rs137853124
rs137853124
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1566341956
rs1566341956
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs535922252
rs535922252
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs554396590
rs554396590
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587783012
rs587783012
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587783018
rs587783018
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587783019
rs587783019
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs61751266
rs61751266
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs752263228
rs752263228
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs771116776
rs771116776
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs776289402
rs776289402
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs776698746
rs776698746
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		CCT 0.700 CausalMutation CLINVAR
dbSNP: rs886039911
rs886039911
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
CUI: C1854260
Disease:
LEBER CONGENITAL AMAUROSIS 6 (disorder) 		T 0.700 GeneticVariation CLINVAR