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rs587783464

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783464(C;T)
Make rs587783464(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3792041
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783464
ebirs587783464
HLIrs587783464
Exacrs587783464
Varsomers587783464
Maprs587783464
PheGenIrs587783464
hapmaprs587783464
1000 genomesrs587783464
hgdprs587783464
ensemblrs587783464
gopubmedrs587783464
geneviewrs587783464
scholarrs587783464
googlers587783464
pharmgkbrs587783464
gwascentralrs587783464
openSNPrs587783464
23andMers587783464
23andMe allrs587783464
SNP Nexus

SNPshotrs587783464
SNPdbers587783464
MSV3drs587783464
GWAS Ctlgrs587783464
Max Magnitude0
ClinVar
Risk rs587783464(T;T)
Alt rs587783464(T;T)
Reference rs587783464(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3842042G>A
CLNSRC
CLNACC RCV000145716.1,