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rs587783508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587783508(-;-)
Make rs587783508(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position3729178
GeneCREBBP
is asnp
is mentioned by
dbSNPrs587783508
dbSNP (classic)rs587783508
ClinGenrs587783508
ebirs587783508
HLIrs587783508
Exacrs587783508
Gnomadrs587783508
Varsomers587783508
LitVarrs587783508
Maprs587783508
PheGenIrs587783508
Biobankrs587783508
1000 genomesrs587783508
hgdprs587783508
ensemblrs587783508
geneviewrs587783508
scholarrs587783508
googlers587783508
pharmgkbrs587783508
gwascentralrs587783508
openSNPrs587783508
23andMers587783508
SNPshotrs587783508
SNPdbers587783508
MSV3drs587783508
GWAS Ctlgrs587783508
Max Magnitude0
ClinVar
Risk rs587783508(-;-)
Alt rs587783508(-;-)
Reference Rs587783508(G;G)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779179delC
CLNSRC
CLNACC RCV000145773.1,