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rs797045497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045497(-;C)
Make rs797045497(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3729209
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045497
dbSNP (old)rs797045497
ClinGenrs797045497
ebirs797045497
HLIrs797045497
Exacrs797045497
Gnomadrs797045497
Varsomers797045497
Maprs797045497
PheGenIrs797045497
Biobankrs797045497
1000 genomesrs797045497
hgdprs797045497
ensemblrs797045497
gopubmedrs797045497
geneviewrs797045497
scholarrs797045497
googlers797045497
pharmgkbrs797045497
gwascentralrs797045497
openSNPrs797045497
23andMers797045497
23andMe allrs797045497
SNP Nexus

SNPshotrs797045497
SNPdbers797045497
MSV3drs797045497
GWAS Ctlgrs797045497
Max Magnitude0
ClinVar
Risk rs797045497(C;C)
Alt rs797045497(C;C)
Reference Rs797045497(-;-)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3779211dupG
CLNSRC
CLNACC RCV000195029.1,