Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893793
rs104893793
RHO
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121909398
rs121909398
CERKL
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs150115958
rs150115958
CABP4
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation 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: rs397515360
rs397515360
CNGB3
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs397517994
rs397517994
USH2A
A 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs483353055
rs483353055
USH2A ; LOC105372918
T 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: rs76157638
rs76157638
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs80338903
rs80338903
USH2A
T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs886042153
rs886042153
CEP290
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Genes and mutations in autosomal dominant cone and cone-rod dystrophy. 22183351

2012
dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Role of the second intradiscal loop of peripherin/rds in homo and hetero associations. 15779916

2005
dbSNP: rs121918567
rs121918567
PRPH2
T 0.700 GeneticVariation CLINVAR Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. 14557183

2003
dbSNP: rs1057517694
rs1057517694
CEP78
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057517695
rs1057517695
CEP78
C 0.700 CausalMutation CLINVAR

dbSNP: rs137853041
rs137853041
ADAM9
T 0.700 CausalMutation CLINVAR

dbSNP: rs147118493
rs147118493
CNGA3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1557110499
rs1557110499
CACNA1F
C 0.700 CausalMutation CLINVAR

dbSNP: rs200691042
rs200691042
FAM161A
A 0.700 CausalMutation CLINVAR

dbSNP: rs2723341
rs2723341
NR2E3
C 0.700 CausalMutation CLINVAR

dbSNP: rs281865377
rs281865377
ABCA4
TG 0.700 CausalMutation CLINVAR

dbSNP: rs28940314
rs28940314
GPHN ; RDH12
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398123044
rs398123044
RAB28
A 0.700 CausalMutation CLINVAR