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rs797045485

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045485(-;C)
Make rs797045485(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3770639
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045485
ClinGenrs797045485
ebirs797045485
HLIrs797045485
Exacrs797045485
Varsomers797045485
Maprs797045485
PheGenIrs797045485
hapmaprs797045485
1000 genomesrs797045485
hgdprs797045485
ensemblrs797045485
gopubmedrs797045485
geneviewrs797045485
scholarrs797045485
googlers797045485
pharmgkbrs797045485
gwascentralrs797045485
openSNPrs797045485
23andMers797045485
23andMe allrs797045485
SNP Nexus

SNPshotrs797045485
SNPdbers797045485
MSV3drs797045485
GWAS Ctlgrs797045485
Max Magnitude0
ClinVar
Risk rs797045485(C;C)
Alt rs797045485(C;C)
Reference Rs797045485(;)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3820641dupG
CLNSRC
CLNACC RCV000194548.1,