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rs587783470

From SNPedia

Orientationminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587783470(-;-)
Make rs587783470(-;CT)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3777648
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783470
ebirs587783470
HLIrs587783470
Exacrs587783470
Varsomers587783470
Maprs587783470
PheGenIrs587783470
hapmaprs587783470
1000 genomesrs587783470
hgdprs587783470
ensemblrs587783470
gopubmedrs587783470
geneviewrs587783470
scholarrs587783470
googlers587783470
pharmgkbrs587783470
gwascentralrs587783470
openSNPrs587783470
23andMers587783470
23andMe allrs587783470
SNP Nexus

SNPshotrs587783470
SNPdbers587783470
MSV3drs587783470
GWAS Ctlgrs587783470
Max Magnitude0
ClinVar
Risk rs587783470(;)
Alt rs587783470(;)
Reference rs587783470(CT;CT)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3827649_3827650delAG
CLNSRC
CLNACC RCV000145723.1,