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rs61753028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a mutation for Stargardt disease
(T;T) 0 common in clinvar


Make rs61753028(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94015763
GeneABCA4
is asnp
is mentioned by
dbSNPrs61753028
dbSNP (classic)rs61753028
ClinGenrs61753028
ebirs61753028
HLIrs61753028
Exacrs61753028
Gnomadrs61753028
Varsomers61753028
LitVarrs61753028
Maprs61753028
PheGenIrs61753028
Biobankrs61753028
1000 genomesrs61753028
hgdprs61753028
ensemblrs61753028
geneviewrs61753028
scholarrs61753028
googlers61753028
pharmgkbrs61753028
gwascentralrs61753028
openSNPrs61753028
23andMers61753028
SNPshotrs61753028
SNPdbers61753028
MSV3drs61753028
GWAS Ctlgrs61753028
Max Magnitude3
ClinVar
Risk rs61753028(C;C)
Alt rs61753028(C;C)
Reference Rs61753028(T;T)
Significance Probable-Pathogenic
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94481319A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000085718.1, RCV000408587.1,