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rs587783460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587783460(C;T)
Make rs587783460(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3793539
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783460
dbSNP (classic)rs587783460
ClinGenrs587783460
ebirs587783460
HLIrs587783460
Exacrs587783460
Gnomadrs587783460
Varsomers587783460
LitVarrs587783460
Maprs587783460
PheGenIrs587783460
Biobankrs587783460
1000 genomesrs587783460
hgdprs587783460
ensemblrs587783460
geneviewrs587783460
scholarrs587783460
googlers587783460
pharmgkbrs587783460
gwascentralrs587783460
openSNPrs587783460
23andMers587783460
SNPshotrs587783460
SNPdbers587783460
MSV3drs587783460
GWAS Ctlgrs587783460
Max Magnitude0
ClinVar
Risk rs587783460(T;T)
Alt rs587783460(T;T)
Reference Rs587783460(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3843540G>A
CLNSRC
CLNACC RCV000145711.1,