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rs587783491

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783491(A;A)
Make rs587783491(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3740398
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783491
ebirs587783491
HLIrs587783491
Exacrs587783491
Varsomers587783491
Maprs587783491
PheGenIrs587783491
hapmaprs587783491
1000 genomesrs587783491
hgdprs587783491
ensemblrs587783491
gopubmedrs587783491
geneviewrs587783491
scholarrs587783491
googlers587783491
pharmgkbrs587783491
gwascentralrs587783491
openSNPrs587783491
23andMers587783491
23andMe allrs587783491
SNP Nexus

SNPshotrs587783491
SNPdbers587783491
MSV3drs587783491
GWAS Ctlgrs587783491
Max Magnitude0
ClinVar
Risk rs587783491(A;A)
Alt rs587783491(A;A)
Reference rs587783491(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3790399C>T
CLNSRC
CLNACC RCV000145749.1,