ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: STARGARDT DISEASE 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754024
rs61754024
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation 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: rs61754024
rs61754024
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs61754024
rs61754024
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 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: rs61754024
rs61754024
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation CLINVAR A map of human genome variation from population-scale sequencing. 20981092 2010
dbSNP: rs61754024
rs61754024
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C1855465
Disease:
STARGARDT DISEASE 1 (disorder) 		C 0.700 GeneticVariation CLINVAR N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. 17982420 2007