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rs587783486

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783486(A;G)
Make rs587783486(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3740551
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783486
ebirs587783486
HLIrs587783486
Exacrs587783486
Varsomers587783486
Maprs587783486
PheGenIrs587783486
hapmaprs587783486
1000 genomesrs587783486
hgdprs587783486
ensemblrs587783486
gopubmedrs587783486
geneviewrs587783486
scholarrs587783486
googlers587783486
pharmgkbrs587783486
gwascentralrs587783486
openSNPrs587783486
23andMers587783486
23andMe allrs587783486
SNP Nexus

SNPshotrs587783486
SNPdbers587783486
MSV3drs587783486
GWAS Ctlgrs587783486
Max Magnitude0
ClinVar
Risk rs587783486(G;G)
Alt rs587783486(G;G)
Reference rs587783486(A;A)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790552T>C
CLNSRC
CLNACC RCV000145744.1,