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rs587783492

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587783492(C;C)
Make rs587783492(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3739632
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783492
ebirs587783492
HLIrs587783492
Exacrs587783492
Varsomers587783492
Maprs587783492
PheGenIrs587783492
hapmaprs587783492
1000 genomesrs587783492
hgdprs587783492
ensemblrs587783492
gopubmedrs587783492
geneviewrs587783492
scholarrs587783492
googlers587783492
pharmgkbrs587783492
gwascentralrs587783492
openSNPrs587783492
23andMers587783492
23andMe allrs587783492
SNP Nexus

SNPshotrs587783492
SNPdbers587783492
MSV3drs587783492
GWAS Ctlgrs587783492
Max Magnitude0
ClinVar
Risk rs587783492(C;C)
Alt rs587783492(C;C)
Reference rs587783492(T;T)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3789633A>G
CLNSRC
CLNACC RCV000145750.1,