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rs797045499

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCAGGCCTGT;CCAGGCCTGT) 0 common in clinvar
Make rs797045499(-;-)
Make rs797045499(-;CCAGGCCTGT)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position3728931
GeneCREBBP
is asnp
is mentioned by
dbSNPrs797045499
dbSNP (old)rs797045499
ClinGenrs797045499
ebirs797045499
HLIrs797045499
Exacrs797045499
Varsomers797045499
Maprs797045499
PheGenIrs797045499
Biobankrs797045499
1000 genomesrs797045499
hgdprs797045499
ensemblrs797045499
gopubmedrs797045499
geneviewrs797045499
scholarrs797045499
googlers797045499
pharmgkbrs797045499
gwascentralrs797045499
openSNPrs797045499
23andMers797045499
23andMe allrs797045499
SNP Nexus

SNPshotrs797045499
SNPdbers797045499
MSV3drs797045499
GWAS Ctlgrs797045499
Max Magnitude0
ClinVar
Risk rs797045499(-;-)
Alt rs797045499(-;-)
Reference Rs797045499(CCAGGCCTGT;CCAGGCCTGT)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome
Variation info
Gene CREBBP
CLNDBN Rubinstein-Taybi syndrome
Reversed 1
HGVS NC_000016.9:g.3778932_3778941delACAGGCCTGG
CLNSRC
CLNACC RCV000194469.1,