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rs587783465

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783465(-;-)
Make rs587783465(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3781290
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783465
ebirs587783465
HLIrs587783465
Exacrs587783465
Varsomers587783465
Maprs587783465
PheGenIrs587783465
hapmaprs587783465
1000 genomesrs587783465
hgdprs587783465
ensemblrs587783465
gopubmedrs587783465
geneviewrs587783465
scholarrs587783465
googlers587783465
pharmgkbrs587783465
gwascentralrs587783465
openSNPrs587783465
23andMers587783465
23andMe allrs587783465
SNP Nexus

SNPshotrs587783465
SNPdbers587783465
MSV3drs587783465
GWAS Ctlgrs587783465
Max Magnitude0
ClinVar
Risk rs587783465(;)
Alt rs587783465(;)
Reference rs587783465(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3831291delG
CLNSRC
CLNACC RCV000145717.1,