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rs61751384

From SNPedia

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


Make rs61751384(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94000866
GeneABCA4
is asnp
is mentioned by
dbSNPrs61751384
dbSNP (classic)rs61751384
ClinGenrs61751384
ebirs61751384
HLIrs61751384
Exacrs61751384
Gnomadrs61751384
Varsomers61751384
LitVarrs61751384
Maprs61751384
PheGenIrs61751384
Biobankrs61751384
1000 genomesrs61751384
hgdprs61751384
ensemblrs61751384
geneviewrs61751384
scholarrs61751384
googlers61751384
pharmgkbrs61751384
gwascentralrs61751384
openSNPrs61751384
23andMers61751384
SNPshotrs61751384
SNPdbers61751384
MSV3drs61751384
GWAS Ctlgrs61751384
Max Magnitude3
ClinVar
Risk rs61751384(A;A)
Alt rs61751384(A;A)
Reference Rs61751384(G;G)
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.94466422C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085823.1, RCV000408531.1,