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rs587777412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587777412(-;A)
Make rs587777412(A;A)
ReferenceGRCh38 38.1/142
Chromosome3
Position41225543
GeneCTNNB1
is asnp
is mentioned by
dbSNPrs587777412
dbSNP (classic)rs587777412
ClinGenrs587777412
ebirs587777412
HLIrs587777412
Exacrs587777412
Gnomadrs587777412
Varsomers587777412
LitVarrs587777412
Maprs587777412
PheGenIrs587777412
Biobankrs587777412
1000 genomesrs587777412
hgdprs587777412
ensemblrs587777412
geneviewrs587777412
scholarrs587777412
googlers587777412
pharmgkbrs587777412
gwascentralrs587777412
openSNPrs587777412
23andMers587777412
SNPshotrs587777412
SNPdbers587777412
MSV3drs587777412
GWAS Ctlgrs587777412
Max Magnitude0
ClinVar
Risk rs587777412(A;A)
Alt rs587777412(A;A)
Reference Rs587777412(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene CTNNB1
CLNDBN Mental retardation, autosomal dominant 19
Reversed 0
HGVS NC_000003.11:g.41267034dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000119827.3,