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rs587783483

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783483(A;A)
Make rs587783483(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3751725
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783483
ebirs587783483
HLIrs587783483
Exacrs587783483
Varsomers587783483
Maprs587783483
PheGenIrs587783483
hapmaprs587783483
1000 genomesrs587783483
hgdprs587783483
ensemblrs587783483
gopubmedrs587783483
geneviewrs587783483
scholarrs587783483
googlers587783483
pharmgkbrs587783483
gwascentralrs587783483
openSNPrs587783483
23andMers587783483
23andMe allrs587783483
SNP Nexus

SNPshotrs587783483
SNPdbers587783483
MSV3drs587783483
GWAS Ctlgrs587783483
Max Magnitude0
ClinVar
Risk rs587783483(A;A)
Alt rs587783483(A;A)
Reference rs587783483(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3801726C>T
CLNSRC
CLNACC RCV000145739.2,