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rs121909204

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909204(C;T)
Make rs121909204(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position94043443
GeneABCA4
is asnp
is mentioned by
dbSNPrs121909204
dbSNP (classic)rs121909204
ClinGenrs121909204
ebirs121909204
HLIrs121909204
Exacrs121909204
Gnomadrs121909204
Varsomers121909204
LitVarrs121909204
Maprs121909204
PheGenIrs121909204
Biobankrs121909204
1000 genomesrs121909204
hgdprs121909204
ensemblrs121909204
geneviewrs121909204
scholarrs121909204
googlers121909204
pharmgkbrs121909204
gwascentralrs121909204
openSNPrs121909204
23andMers121909204
SNPshotrs121909204
SNPdbers121909204
MSV3drs121909204
GWAS Ctlgrs121909204
Max Magnitude0
OMIM601691
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909204(T;T)
Alt rs121909204(T;T)
Reference Rs121909204(C;C)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94508999G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008331.4,