Rs121434624

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Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434624(C;T)
Make rs121434624(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position3850689
GeneCREBBP
is asnp
is mentioned by
dbSNPrs121434624
Exacrs121434624
PheGenIrs121434624
nextbiors121434624
hapmaprs121434624
1000 genomesrs121434624
hgdprs121434624
ensemblrs121434624
gopubmedrs121434624
geneviewrs121434624
scholarrs121434624
googlers121434624
pharmgkbrs121434624
gwascentralrs121434624
openSNPrs121434624
23andMers121434624
23andMe allrs121434624
SNP Nexus

SNPshotrs121434624
SNPdbers121434624
MSV3drs121434624
OMIM600140
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434624(T;T)
Alt rs121434624(T;T)
Reference rs121434624(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900690G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010035.1,