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rs797045489

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045489(C;T)
Make rs797045489(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3757982
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045489
ebirs797045489
HLIrs797045489
Exacrs797045489
Varsomers797045489
Maprs797045489
PheGenIrs797045489
hapmaprs797045489
1000 genomesrs797045489
hgdprs797045489
ensemblrs797045489
gopubmedrs797045489
geneviewrs797045489
scholarrs797045489
googlers797045489
pharmgkbrs797045489
gwascentralrs797045489
openSNPrs797045489
23andMers797045489
23andMe allrs797045489
SNP Nexus

SNPshotrs797045489
SNPdbers797045489
MSV3drs797045489
GWAS Ctlgrs797045489
Max Magnitude0
ClinVar
Risk rs797045489(T;T)
Alt rs797045489(T;T)
Reference rs797045489(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3807983G>A
CLNSRC
CLNACC RCV000192840.1,