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rs587783461

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783461(C;T)
Make rs587783461(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3793446
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783461
ebirs587783461
HLIrs587783461
Exacrs587783461
Varsomers587783461
Maprs587783461
PheGenIrs587783461
hapmaprs587783461
1000 genomesrs587783461
hgdprs587783461
ensemblrs587783461
gopubmedrs587783461
geneviewrs587783461
scholarrs587783461
googlers587783461
pharmgkbrs587783461
gwascentralrs587783461
openSNPrs587783461
23andMers587783461
23andMe allrs587783461
SNP Nexus

SNPshotrs587783461
SNPdbers587783461
MSV3drs587783461
GWAS Ctlgrs587783461
Max Magnitude0
ClinVar
Risk rs587783461(T;T)
Alt rs587783461(T;T)
Reference rs587783461(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3843447G>A
CLNSRC
CLNACC RCV000145713.1,