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rs397514554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514554(C;T)
Make rs397514554(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position41234157
GeneCTNNB1
is asnp
is mentioned by
dbSNPrs397514554
ebirs397514554
HLIrs397514554
Exacrs397514554
Varsomers397514554
Maprs397514554
PheGenIrs397514554
hapmaprs397514554
1000 genomesrs397514554
hgdprs397514554
ensemblrs397514554
gopubmedrs397514554
geneviewrs397514554
scholarrs397514554
googlers397514554
pharmgkbrs397514554
gwascentralrs397514554
openSNPrs397514554
23andMers397514554
23andMe allrs397514554
SNP Nexus

SNPshotrs397514554
SNPdbers397514554
MSV3drs397514554
GWAS Ctlgrs397514554
Max Magnitude0
ClinVar
Risk rs397514554(T;T)
Alt rs397514554(T;T)
Reference rs397514554(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene CTNNB1
CLNDBN Mental retardation, autosomal dominant 19
Reversed 0
HGVS NC_000003.11:g.41275648C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032859.23,