Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606691
rs267606691
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation BEFREE Mutation analysis detected a 1 bp deletion (c.946 del; p.Asn237MetfsX5) segregating with RP in the Dutch family, whereas a nonsense mutation (c.556C > T; p.Gln186X) was identified in the Israeli family. 20398884 2010
dbSNP: rs267606691
rs267606691
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR
dbSNP: rs863223344
rs863223344
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
dbSNP: rs140776870
rs140776870
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
dbSNP: rs200758183
rs200758183
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
dbSNP: rs367658438
rs367658438
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 CausalMutation CLINVAR Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
dbSNP: rs140776870
rs140776870
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010
dbSNP: rs140776870
rs140776870
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
dbSNP: rs200758183
rs200758183
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010
dbSNP: rs200758183
rs200758183
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010
dbSNP: rs750987123
rs750987123
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
dbSNP: rs1553354826
rs1553354826
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs267606690
rs267606690
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267606691
rs267606691
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		A 0.700 CausalMutation CLINVAR
dbSNP: rs527236055
rs527236055
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs527236056
rs527236056
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		TG 0.700 GeneticVariation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C4025846
Disease:
Abnormality of vision 		T 0.700 CausalMutation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		T 0.700 CausalMutation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0028077
Disease:
Nyctalopia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C4072872
Disease:
obsolete Rod-cone dystrophy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs777103184
rs777103184
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0730292
Disease:
Macular dystrophy 		T 0.700 CausalMutation CLINVAR