Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124401
rs398124401
SRD5A3
A 0.700 CausalMutation CLINVAR

dbSNP: rs606231180
rs606231180
RPGR
T 0.700 CausalMutation CLINVAR

dbSNP: rs759359491
rs759359491
RDH5 ; BLOC1S1-RDH5
0.010 GeneticVariation BEFREE The Gly35Ser mutation causes fundus albipunctatus with cone dystrophy. 11448328

2001
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: 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: 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: rs149648640
rs149648640
PUM3 ; KCNV2
0.010 GeneticVariation BEFREE Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. 21911584

2011
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
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: 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: rs1271498710
rs1271498710
NMNAT1
A 0.700 GeneticVariation 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: rs1432600424
rs1432600424
CNNM4
G 0.700 CausalMutation 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: 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: rs140451304
rs140451304
CFAP410
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909398
rs121909398
CERKL
A 0.700 CausalMutation CLINVAR

dbSNP: rs753994107
rs753994107
CERKL
C 0.700 CausalMutation CLINVAR

dbSNP: rs531851447
rs531851447
CABP4
T 0.700 GeneticVariation CLINVAR