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rs797045483

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045483(-;C)
Make rs797045483(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3774673
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045483
ClinGenrs797045483
ebirs797045483
HLIrs797045483
Exacrs797045483
Varsomers797045483
Maprs797045483
PheGenIrs797045483
hapmaprs797045483
1000 genomesrs797045483
hgdprs797045483
ensemblrs797045483
gopubmedrs797045483
geneviewrs797045483
scholarrs797045483
googlers797045483
pharmgkbrs797045483
gwascentralrs797045483
openSNPrs797045483
23andMers797045483
23andMe allrs797045483
SNP Nexus

SNPshotrs797045483
SNPdbers797045483
MSV3drs797045483
GWAS Ctlgrs797045483
Max Magnitude0
ClinVar
Risk rs797045483(C;C)
Alt rs797045483(C;C)
Reference Rs797045483(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3824675dupG
CLNSRC
CLNACC RCV000192496.1,