Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61753046
rs61753046
ABCA4
A 0.700 CausalMutation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664

2017
dbSNP: rs61753046
rs61753046
ABCA4
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs61753046
rs61753046
ABCA4
A 0.700 CausalMutation CLINVAR Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 22968130

2013
dbSNP: rs61753046
rs61753046
ABCA4
A 0.700 CausalMutation CLINVAR Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. 23134348

2013
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