Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893781
rs104893781
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 GeneticVariation CLINVAR

dbSNP: rs104893786
rs104893786
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.710 CausalMutation CLINVAR

dbSNP: rs104894559
rs104894559
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 CausalMutation CLINVAR Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508

2005
dbSNP: rs104894559
rs104894559
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 CausalMutation CLINVAR Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652

2004
dbSNP: rs112029032
rs112029032
HGSNAT
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR

dbSNP: rs200946638
rs200946638
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR

dbSNP: rs267606691
rs267606691
PCARE
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR

dbSNP: rs28937873
rs28937873
NR2E3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs527236067
rs527236067
PHF3 ; EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 CausalMutation CLINVAR

dbSNP: rs527236076
rs527236076
PHF3 ; EYS
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.710 GeneticVariation CLINVAR

dbSNP: rs61751374
rs61751374
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61755800
rs61755800
PRPH2
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.710 GeneticVariation CLINVAR Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. 8449524

1993
dbSNP: rs62645944
rs62645944
ABCA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs753942596
rs753942596
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 GeneticVariation CLINVAR

dbSNP: rs753942596
rs753942596
PDE6A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR

dbSNP: rs80338904
rs80338904
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		C 0.710 GeneticVariation CLINVAR

dbSNP: rs1003869920
rs1003869920
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1003869920
rs1003869920
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
dbSNP: rs1035024403
rs1035024403
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893776
rs104893776
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs104893793
rs104893793
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs104893794
rs104893794
RHO
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104893967
rs104893967
GUCA1A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		G 0.700 GeneticVariation CLINVAR A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 9425234

1998
dbSNP: rs104894178
rs104894178
PHYH
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		A 0.700 GeneticVariation CLINVAR Identification of PAHX, a Refsum disease gene. 9326939

1997
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019