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rs587783467

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783467(-;-)
Make rs587783467(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3780734
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783467
ebirs587783467
HLIrs587783467
Exacrs587783467
Varsomers587783467
Maprs587783467
PheGenIrs587783467
hapmaprs587783467
1000 genomesrs587783467
hgdprs587783467
ensemblrs587783467
gopubmedrs587783467
geneviewrs587783467
scholarrs587783467
googlers587783467
pharmgkbrs587783467
gwascentralrs587783467
openSNPrs587783467
23andMers587783467
23andMe allrs587783467
SNP Nexus

SNPshotrs587783467
SNPdbers587783467
MSV3drs587783467
GWAS Ctlgrs587783467
Max Magnitude0
ClinVar
Risk rs587783467(;)
Alt rs587783467(;)
Reference rs587783467(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3830735delT
CLNSRC
CLNACC RCV000145719.1,