Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

dbSNP: rs143994166
rs143994166
EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs145282040
rs145282040
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486

2010
dbSNP: rs149071415
rs149071415
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs150726175
rs150726175
NMNAT1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553186896
rs1553186896
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821

2012
dbSNP: rs1553190559
rs1553190559
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
dbSNP: rs1553192432
rs1553192432
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
dbSNP: rs1553192726
rs1553192726
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
dbSNP: rs1553193813
rs1553193813
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553249226
rs1553249226
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553263218
rs1553263218
CRB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TG 0.700 CausalMutation CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820

2007
dbSNP: rs1553403585
rs1553403585
ALMS1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		TCTATTCTGGACTG 0.700 GeneticVariation CLINVAR

dbSNP: rs1553512879
rs1553512879
CERKL
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553711564
rs1553711564
IQCB1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554186385
rs1554186385
GUCA1A
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554214453
rs1554214453
EYS
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554269053
rs1554269053
PRPH2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554270834
rs1554270834
PRPH2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Prph2 mutations as a cause of electronegative ERG. 24608669

2014
dbSNP: rs1554628460
rs1554628460
KCNV2
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		CCCGTTCCGGCTCCCAGGCCAGCATCCACGGCTGGACAGAGGGCAACTATAACTACTACATCGAGGAAGACGAAGACGGCGAGGAGGAGGACCAGTGGAAGGACGACCTGGCAGAAGAGGACCAGCAGGCAGGGGAGGTCACCACCGCCAAGCCCGAGGGCCCCAGCGACCCTCCGGCCCTGCTGT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554824273
rs1554824273
RGR
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		AG 0.700 CausalMutation CLINVAR Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 10581022

1999
dbSNP: rs1554857529
rs1554857529
CDHR1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554998040
rs1554998040
CABP4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR