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rs587783471

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783471(A;A)
Make rs587783471(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3770915
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783471
ebirs587783471
HLIrs587783471
Exacrs587783471
Varsomers587783471
Maprs587783471
PheGenIrs587783471
hapmaprs587783471
1000 genomesrs587783471
hgdprs587783471
ensemblrs587783471
gopubmedrs587783471
geneviewrs587783471
scholarrs587783471
googlers587783471
pharmgkbrs587783471
gwascentralrs587783471
openSNPrs587783471
23andMers587783471
23andMe allrs587783471
SNP Nexus

SNPshotrs587783471
SNPdbers587783471
MSV3drs587783471
GWAS Ctlgrs587783471
Max Magnitude0
ClinVar
Risk rs587783471(A;A)
Alt rs587783471(A;A)
Reference rs587783471(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820916G>T
CLNSRC
CLNACC RCV000145724.1,