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rs587783489

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783489(C;T)
Make rs587783489(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3740487
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783489
ebirs587783489
HLIrs587783489
Exacrs587783489
Varsomers587783489
Maprs587783489
PheGenIrs587783489
hapmaprs587783489
1000 genomesrs587783489
hgdprs587783489
ensemblrs587783489
gopubmedrs587783489
geneviewrs587783489
scholarrs587783489
googlers587783489
pharmgkbrs587783489
gwascentralrs587783489
openSNPrs587783489
23andMers587783489
23andMe allrs587783489
SNP Nexus

SNPshotrs587783489
SNPdbers587783489
MSV3drs587783489
GWAS Ctlgrs587783489
Max Magnitude0
ClinVar
Risk rs587783489(T;T)
Alt rs587783489(T;T)
Reference rs587783489(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790488G>A
CLNSRC
CLNACC RCV000145747.1,