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rs587783506

From SNPedia

Orientationminus
Geno Mag Summary
(CCCCACCCCCG;CCCCACCCCCG) 0 common in clinvar
Make rs587783506(-;-)
Make rs587783506(-;CCCCACCCCCG)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3729203
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783506
ebirs587783506
HLIrs587783506
Exacrs587783506
Varsomers587783506
Maprs587783506
PheGenIrs587783506
hapmaprs587783506
1000 genomesrs587783506
hgdprs587783506
ensemblrs587783506
gopubmedrs587783506
geneviewrs587783506
scholarrs587783506
googlers587783506
pharmgkbrs587783506
gwascentralrs587783506
openSNPrs587783506
23andMers587783506
23andMe allrs587783506
SNP Nexus

SNPshotrs587783506
SNPdbers587783506
MSV3drs587783506
GWAS Ctlgrs587783506
Max Magnitude0
ClinVar
Risk rs587783506(;)
Alt rs587783506(;)
Reference rs587783506(CCCCACCCCCG;CCCCACCCCCG)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779204_3779214delCGGGGGTGGGG
CLNSRC
CLNACC RCV000145771.1,