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rs376393123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376393123(C;G)
Make rs376393123(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position41225850
GeneCTNNB1
is asnp
is mentioned by
dbSNPrs376393123
ebirs376393123
HLIrs376393123
Exacrs376393123
Varsomers376393123
Maprs376393123
PheGenIrs376393123
hapmaprs376393123
1000 genomesrs376393123
hgdprs376393123
ensemblrs376393123
gopubmedrs376393123
geneviewrs376393123
scholarrs376393123
googlers376393123
pharmgkbrs376393123
gwascentralrs376393123
openSNPrs376393123
23andMers376393123
23andMe allrs376393123
SNP Nexus

SNPshotrs376393123
SNPdbers376393123
MSV3drs376393123
GWAS Ctlgrs376393123
Max Magnitude0
ClinVar
Risk rs376393123(G,T;G,T)
Alt rs376393123(G,T;G,T)
Reference rs376393123(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene CTNNB1
CLNDBN Mental retardation, autosomal dominant 19
Reversed 0
HGVS NC_000003.11:g.41267341C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032860.27,