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Rs121434626

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434626(C;C)
Make rs121434626(C;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position3740399
GeneCREBBP
is asnp
is mentioned by
dbSNPrs121434626
PheGenIrs121434626
nextbiors121434626
hapmaprs121434626
1000 genomesrs121434626
hgdprs121434626
ensemblrs121434626
gopubmedrs121434626
geneviewrs121434626
scholarrs121434626
googlers121434626
pharmgkbrs121434626
gwascentralrs121434626
openSNPrs121434626
23andMers121434626
23andMe allrs121434626
SNP Nexus

SNPshotrs121434626
SNPdbers121434626
MSV3drs121434626
Max Magnitude0
OMIM600140
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434626(C;C)
Alt rs121434626(C;C)
Reference rs121434626(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790400C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010037.3,