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rs61751406

From SNPedia

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


Make rs61751406(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94014622
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751406
dbSNP (classic)rs61751406
ClinGenrs61751406
ebirs61751406
HLIrs61751406
Exacrs61751406
Gnomadrs61751406
Varsomers61751406
LitVarrs61751406
Maprs61751406
PheGenIrs61751406
Biobankrs61751406
1000 genomesrs61751406
hgdprs61751406
ensemblrs61751406
geneviewrs61751406
scholarrs61751406
googlers61751406
pharmgkbrs61751406
gwascentralrs61751406
openSNPrs61751406
23andMers61751406
SNPshotrs61751406
SNPdbers61751406
MSV3drs61751406
GWAS Ctlgrs61751406
Max Magnitude3
ClinVar
Risk rs61751406(A;A)
Alt rs61751406(A;A)
Reference Rs61751406(C;C)
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.94480178G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085725.1, RCV000408516.1,