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rs587783480

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783480(G;T)
Make rs587783480(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3758853
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783480
ebirs587783480
HLIrs587783480
Exacrs587783480
Varsomers587783480
Maprs587783480
PheGenIrs587783480
hapmaprs587783480
1000 genomesrs587783480
hgdprs587783480
ensemblrs587783480
gopubmedrs587783480
geneviewrs587783480
scholarrs587783480
googlers587783480
pharmgkbrs587783480
gwascentralrs587783480
openSNPrs587783480
23andMers587783480
23andMe allrs587783480
SNP Nexus

SNPshotrs587783480
SNPdbers587783480
MSV3drs587783480
GWAS Ctlgrs587783480
Max Magnitude0
ClinVar
Risk rs587783480(T;T)
Alt rs587783480(T;T)
Reference rs587783480(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3808854C>A
CLNSRC
CLNACC RCV000145736.1,