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rs61753033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs61753033(C;C)
Make rs61753033(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94008767
GeneABCA4
is asnp
is mentioned by
dbSNPrs61753033
dbSNP (classic)rs61753033
ClinGenrs61753033
ebirs61753033
HLIrs61753033
Exacrs61753033
Gnomadrs61753033
Varsomers61753033
LitVarrs61753033
Maprs61753033
PheGenIrs61753033
Biobankrs61753033
1000 genomesrs61753033
hgdprs61753033
ensemblrs61753033
geneviewrs61753033
scholarrs61753033
googlers61753033
pharmgkbrs61753033
gwascentralrs61753033
openSNPrs61753033
23andMers61753033
SNPshotrs61753033
SNPdbers61753033
MSV3drs61753033
GWAS Ctlgrs61753033
Max Magnitude0
OMIM601691
Desc
Variant0033
Relatedalso


ClinVar
Risk rs61753033(C;C)
Alt rs61753033(C;C)
Reference Rs61753033(T;T)
Significance Pathogenic
Disease Stargardt disease Stargardt disease 1 Cone-rod dystrophy 3 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease Stargardt disease 1 Cone-rod dystrophy 3 not provided
Reversed 1
HGVS NC_000001.10:g.94474323A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008370.3, RCV000008371.3, RCV000008372.3, RCV000085762.1,