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rs121909207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909207(C;G)
Make rs121909207(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94014665
GeneABCA4
is asnp
is mentioned by
dbSNPrs121909207
dbSNP (classic)rs121909207
ClinGenrs121909207
ebirs121909207
HLIrs121909207
Exacrs121909207
Gnomadrs121909207
Varsomers121909207
LitVarrs121909207
Maprs121909207
PheGenIrs121909207
Biobankrs121909207
1000 genomesrs121909207
hgdprs121909207
ensemblrs121909207
geneviewrs121909207
scholarrs121909207
googlers121909207
pharmgkbrs121909207
gwascentralrs121909207
openSNPrs121909207
23andMers121909207
SNPshotrs121909207
SNPdbers121909207
MSV3drs121909207
GWAS Ctlgrs121909207
Max Magnitude0
OMIM601691
Desc
Variant0034
Relatedalso
ClinVar
Risk rs121909207(G;G)
Alt rs121909207(G;G)
Reference Rs121909207(C;C)
Significance Pathogenic
Disease Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94480221G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008373.4,