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rs797045486

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045486(-;C)
Make rs797045486(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3850812
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045486
ClinGenrs797045486
ebirs797045486
HLIrs797045486
Exacrs797045486
Varsomers797045486
Maprs797045486
PheGenIrs797045486
hapmaprs797045486
1000 genomesrs797045486
hgdprs797045486
ensemblrs797045486
gopubmedrs797045486
geneviewrs797045486
scholarrs797045486
googlers797045486
pharmgkbrs797045486
gwascentralrs797045486
openSNPrs797045486
23andMers797045486
23andMe allrs797045486
SNP Nexus

SNPshotrs797045486
SNPdbers797045486
MSV3drs797045486
GWAS Ctlgrs797045486
Max Magnitude0
ClinVar
Risk rs797045486(C;C)
Alt rs797045486(C;C)
Reference Rs797045486(-;-)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3900814dupG
CLNSRC
CLNACC RCV000192951.1,