Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853006
rs137853006
PROM1
A 0.720 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800553
rs1800553
ABCA4
0.720 GeneticVariation BEFREE Homozygosity for a novel complex allele G1961E/L857P causes a childhood-onset cone-rod dystrophy rather than the young-adult-onset macular dystrophy that is associated with G1961E alone. 31318848

2019
dbSNP: rs1800553
rs1800553
ABCA4
T 0.720 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
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: 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: 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: rs1800553
rs1800553
ABCA4
T 0.720 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs868349465
rs868349465
EYS
0.710 GeneticVariation BEFREE Two siblings with macular dystrophy carried compound heterozygous EYS variants: c.1299+5_1299+8del and c.6050G>T. 31074760

2019
dbSNP: rs868349465
rs868349465
EYS
A 0.710 CausalMutation CLINVAR

dbSNP: rs104893968
rs104893968
GUCA1A
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs139185976
rs139185976
PRPH2
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800728
rs1800728
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs201471607
rs201471607
ABCA4
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs267606875
rs267606875
IMPG2
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs281865239
rs281865239
BEST1 ; LOC107984334
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs281865255
rs281865255
BEST1 ; LOC107984334
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61750641
rs61750641
ABCA4
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751374
rs61751374
ABCA4
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751402
rs61751402
ABCA4
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61755793
rs61755793
PRPH2
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61755814
rs61755814
PRPH2
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62625014
rs62625014
CNGA1 ; NIPAL1 ; LOC101927157
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62645944
rs62645944
ABCA4
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs778234759
rs778234759
ABCA4
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019