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rs797045484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTCTTCCGGGCA;GTCTTCCGGGCA) 0 common in clinvar
Make rs797045484(CC;CC)
Make rs797045484(CC;GTCTTCCGGGCA)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3770760
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045484
ClinGenrs797045484
ebirs797045484
HLIrs797045484
Exacrs797045484
Varsomers797045484
Maprs797045484
PheGenIrs797045484
hapmaprs797045484
1000 genomesrs797045484
hgdprs797045484
ensemblrs797045484
gopubmedrs797045484
geneviewrs797045484
scholarrs797045484
googlers797045484
pharmgkbrs797045484
gwascentralrs797045484
openSNPrs797045484
23andMers797045484
23andMe allrs797045484
SNP Nexus

SNPshotrs797045484
SNPdbers797045484
MSV3drs797045484
GWAS Ctlgrs797045484
Max Magnitude0
ClinVar
Risk rs797045484(CC;CC)
Alt rs797045484(CC;CC)
Reference Rs797045484(GTCTTCCGGGCA;GTCTTCCGGGCA)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820761_3820772delTGCCCGGAAGACinsGG
CLNSRC
CLNACC RCV000193709.1,