Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113106943
rs113106943
ABCA4
T 0.700 GeneticVariation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013
dbSNP: rs41292677
rs41292677
ABCA4
G 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61753046
rs61753046
ABCA4
A 0.700 CausalMutation CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761

2000
dbSNP: rs1568725951
rs1568725951
ABHD12
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057515576
rs1057515576
ARL6
GAAAA 0.700 CausalMutation CLINVAR

dbSNP: rs147030232
rs147030232
BBS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1238632042
rs1238632042
BBS5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137853921
rs137853921
BBS5
G 0.700 GeneticVariation CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946

2004
dbSNP: rs531851447
rs531851447
CABP4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121909398
rs121909398
CERKL
A 0.700 CausalMutation CLINVAR

dbSNP: rs753994107
rs753994107
CERKL
C 0.700 CausalMutation CLINVAR

dbSNP: rs140451304
rs140451304
CFAP410
G 0.700 GeneticVariation CLINVAR

dbSNP: rs117522010
rs117522010
CNGA3
A 0.700 GeneticVariation CLINVAR Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937

2008
dbSNP: rs146195955
rs146195955
CNGA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs147876778
rs147876778
CNGB3
0.010 GeneticVariation BEFREE As in human subjects, there was a striking genotype-phenotype correlation, since the presence of 1 Cnga3-null allele exacerbated the cone dystrophy phenotype in Cngb3R403Q/R403Q mice. 30418171

2018
dbSNP: rs1432600424
rs1432600424
CNNM4
G 0.700 CausalMutation CLINVAR

dbSNP: rs61749668
rs61749668
GUCY2D
A 0.700 GeneticVariation CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820

2007
dbSNP: rs61750172
rs61750172
GUCY2D
T 0.700 CausalMutation CLINVAR

dbSNP: rs61750173
rs61750173
GUCY2D
A 0.700 CausalMutation CLINVAR

dbSNP: rs952193754
rs952193754
GUCY2D
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1271498710
rs1271498710
NMNAT1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1312074632
rs1312074632
PCDH15
0.010 GeneticVariation BEFREE Our findings indicate that a homozygous p.S1210P exchange in the RP1L1 gene can cause cone dystrophy. 25692141

2015
dbSNP: rs76216585
rs76216585
POC1B
0.010 GeneticVariation BEFREE Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. 25018096

2014
dbSNP: rs61755783
rs61755783
PRPH2
A 0.700 CausalMutation CLINVAR

dbSNP: rs61755766
rs61755766
PRPH2
0.010 GeneticVariation BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636

1997