Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159985
rs724159985
CDH3
A 0.700 CausalMutation CLINVAR Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. 14708629

2003
dbSNP: rs62636273
rs62636273
CRB1
A 0.700 CausalMutation CLINVAR Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 15024725

2004
dbSNP: rs1800728
rs1800728
ABCA4
G 0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537

2005
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 GeneticVariation CLINVAR Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510. 17297678

2006
dbSNP: rs1800553
rs1800553
ABCA4
0.720 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811

2007
dbSNP: rs1556313414
rs1556313414
RP2
G 0.700 GeneticVariation CLINVAR Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. 18552978

2008
dbSNP: rs61755792
rs61755792
PRPH2
0.020 GeneticVariation BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438

2009
dbSNP: rs137853006
rs137853006
PROM1
0.720 GeneticVariation BEFREE The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 20393116

2010
dbSNP: rs281865377
rs281865377
ABCA4
T 0.700 CausalMutation CLINVAR Gene symbol: ABCA4. Disease: Macular dystrophy. 20960624

2008
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.040 GeneticVariation BEFREE This study highlights the mechanisms underlying the inefficient secretion of R345W EFEMP1 and demonstrates that alteration of the proteostasis network may provide a strategy to alleviate or delay the onset of this macular dystrophy. 22031286

2011
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.040 GeneticVariation BEFREE An R345W mutation in fibulin-3 causes its inefficient secretion, increased intracellular steady-state levels, and the macular dystrophy, Malattia Leventinese (ML), a disease similar to age-related macular degeneration. 23230284

2013
dbSNP: rs751163782
rs751163782
RAB28
C 0.700 CausalMutation CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546

2013
dbSNP: rs875989778
rs875989778
RAB28
G 0.700 CausalMutation CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546

2013
dbSNP: rs1553192682
rs1553192682
ABCA4
C 0.700 GeneticVariation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
dbSNP: rs751163782
rs751163782
RAB28
C 0.700 CausalMutation CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532

2015
dbSNP: rs875989778
rs875989778
RAB28
G 0.700 CausalMutation CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532

2015
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.040 GeneticVariation BEFREE An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML). 25481286

2015
dbSNP: rs121434491
rs121434491
EFEMP1 ; LOC112268416
0.040 GeneticVariation BEFREE An Arg345Trp (R345W) mutation in F3 causes the rare, autosomal dominant macular dystrophy, Malattia Leventinese. 27777122

2016
dbSNP: rs1033920857
rs1033920857
PROM1
0.010 GeneticVariation BEFREE The p.Asp776Val and p.Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic; they were probably responsible for macular dystrophy in these patients. 28095140

2017
dbSNP: rs146434364
rs146434364
PROM1
0.010 GeneticVariation BEFREE The p.Asp776Val and p.Asp829Asn variants were detected in cases 1 and 2, respectively, and predicted to be pathogenic; they were probably responsible for macular dystrophy in these patients. 28095140

2017
dbSNP: rs137853006
rs137853006
PROM1
0.720 GeneticVariation BEFREE Identification of the PROM1 Mutation p.R373C in a Korean Patient With Autosomal Dominant Stargardt-like Macular Dystrophy. 28840994

2017
dbSNP: rs1201356843
rs1201356843
CRB1
A 0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521

2018
dbSNP: rs1553260321
rs1553260321
CRB1
C 0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521

2018
dbSNP: rs398124615
rs398124615
CRB1
G 0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521

2018
dbSNP: rs62635654
rs62635654
CRB1
T 0.700 CausalMutation CLINVAR A clinical and molecular characterisation of CRB1-associated maculopathy. 29391521

2018