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Rs121434625

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Orientationminus
is asnp
is mentioned by
dbSNPrs121434625
PheGenIrs121434625
nextbiors121434625
hapmaprs121434625
1000 genomesrs121434625
hgdprs121434625
ensemblrs121434625
gopubmedrs121434625
geneviewrs121434625
scholarrs121434625
googlers121434625
pharmgkbrs121434625
gwascentralrs121434625
openSNPrs121434625
23andMers121434625
23andMe allrs121434625
SNP Nexus

SNPshotrs121434625
SNPdbers121434625
MSV3drs121434625
GeneCREBBP
Chromosome16
Orientationminus
Position3793533
ReferenceGRCh38 38.1/141
Max Magnitude0
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434625(C;T)
Make rs121434625(T;T)
OMIM600140
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434625(T;T)
Alt rs121434625(T;T)
Reference rs121434625(C;C)
Significance 5
Disease Rubinstein-Taybi syndrome
ClinVar info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
CLNHGVS NC_000016.9:g.3843534G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010036.1