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rs587783507

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783507(-;-)
Make rs587783507(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3729210
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783507
ebirs587783507
HLIrs587783507
Exacrs587783507
Varsomers587783507
Maprs587783507
PheGenIrs587783507
hapmaprs587783507
1000 genomesrs587783507
hgdprs587783507
ensemblrs587783507
gopubmedrs587783507
geneviewrs587783507
scholarrs587783507
googlers587783507
pharmgkbrs587783507
gwascentralrs587783507
openSNPrs587783507
23andMers587783507
23andMe allrs587783507
SNP Nexus

SNPshotrs587783507
SNPdbers587783507
MSV3drs587783507
GWAS Ctlgrs587783507
Max Magnitude0
ClinVar
Risk rs587783507(;)
Alt rs587783507(;)
Reference rs587783507(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779211delG
CLNSRC
CLNACC RCV000145772.1,