Rs121434626

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Orientationminus
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
GeneCREBBP
Chromosome16
Orientationminus
Position3790400
ReferenceGRCh37 37.1/132
Max Magnitude0
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434626(C;C)
Make rs121434626(C;G)
OMIM600140
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434626(C;C)
Alt rs121434626(C;C)
Reference rs121434626(G;G)
Significance 5
Disease Rubinstein-Taybi syndrome
ClinVar info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
CLNHGVS NC_000016.9:g.3790400C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010037.3