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rs587783477

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783477(-;-)
Make rs587783477(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3850796
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783477
ebirs587783477
HLIrs587783477
Exacrs587783477
Varsomers587783477
Maprs587783477
PheGenIrs587783477
hapmaprs587783477
1000 genomesrs587783477
hgdprs587783477
ensemblrs587783477
gopubmedrs587783477
geneviewrs587783477
scholarrs587783477
googlers587783477
pharmgkbrs587783477
gwascentralrs587783477
openSNPrs587783477
23andMers587783477
23andMe allrs587783477
SNP Nexus

SNPshotrs587783477
SNPdbers587783477
MSV3drs587783477
GWAS Ctlgrs587783477
Max Magnitude0
ClinVar
Risk rs587783477(;)
Alt rs587783477(;)
Reference rs587783477(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900797delC
CLNSRC
CLNACC RCV000145733.1,