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rs587783476

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783476(C;T)
Make rs587783476(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3850809
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783476
ebirs587783476
HLIrs587783476
Exacrs587783476
Varsomers587783476
Maprs587783476
PheGenIrs587783476
hapmaprs587783476
1000 genomesrs587783476
hgdprs587783476
ensemblrs587783476
gopubmedrs587783476
geneviewrs587783476
scholarrs587783476
googlers587783476
pharmgkbrs587783476
gwascentralrs587783476
openSNPrs587783476
23andMers587783476
23andMe allrs587783476
SNP Nexus

SNPshotrs587783476
SNPdbers587783476
MSV3drs587783476
GWAS Ctlgrs587783476
Max Magnitude0
ClinVar
Risk rs587783476(T;T)
Alt rs587783476(T;T)
Reference rs587783476(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900810G>A
CLNSRC
CLNACC RCV000145732.1,