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rs587783484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587783484(A;G)
Make rs587783484(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3879880
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783484
dbSNP (classic)rs587783484
ClinGenrs587783484
ebirs587783484
HLIrs587783484
Exacrs587783484
Gnomadrs587783484
Varsomers587783484
LitVarrs587783484
Maprs587783484
PheGenIrs587783484
Biobankrs587783484
1000 genomesrs587783484
hgdprs587783484
ensemblrs587783484
geneviewrs587783484
scholarrs587783484
googlers587783484
pharmgkbrs587783484
gwascentralrs587783484
openSNPrs587783484
23andMers587783484
SNPshotrs587783484
SNPdbers587783484
MSV3drs587783484
GWAS Ctlgrs587783484
Max Magnitude0
ClinVar
Risk rs587783484(G;G)
Alt rs587783484(G;G)
Reference Rs587783484(A;A)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3929881T>C
CLNSRC
CLNACC RCV000145740.1,