Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1010184002
rs1010184002
PEX6
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs104894927
rs104894927
RP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa. 10053026

1999
dbSNP: rs1052954321
rs1052954321
ALPK1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659

2019
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518939
rs1057518939
VPS13B
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1064793014
rs1064793014
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2014
dbSNP: rs111733491
rs111733491
LRP2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs112029032
rs112029032
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs113624356
rs113624356
BBS1 ; ZDHHC24
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255

2002
dbSNP: rs1189889920
rs1189889920
IQCB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1196489060
rs1196489060
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908180
rs121908180
BBS2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121908282
rs121908282
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 17033958

2006
dbSNP: rs121909398
rs121909398
CERKL
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004
dbSNP: rs121918244
rs121918244
IQCB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 15723066

2005
dbSNP: rs121918327
rs121918327
BBS12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1356104318
rs1356104318
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs137852832
rs137852832
CEP290
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR

dbSNP: rs137853005
rs137853005
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs137853137
rs137853137
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs137853907
rs137853907
PROM1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011
dbSNP: rs138504221
rs138504221
SGSH
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1401818080
rs1401818080
HGSNAT
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TA 0.700 GeneticVariation CLINVAR Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 19479962

2009
dbSNP: rs1435861529
rs1435861529
PHF3 ; EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR