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rs797045560

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAT;CAAT) 0 common in clinvar
Make rs797045560(-;-)
Make rs797045560(-;TCAA)
Make rs797045560(TCAA;TCAA)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41178626
GeneEP300
is asnp
is mentioned by
dbSNPrs797045560
dbSNP (old)rs797045560
ClinGenrs797045560
ebirs797045560
HLIrs797045560
Exacrs797045560
Gnomadrs797045560
Varsomers797045560
Maprs797045560
PheGenIrs797045560
Biobankrs797045560
1000 genomesrs797045560
hgdprs797045560
ensemblrs797045560
gopubmedrs797045560
geneviewrs797045560
scholarrs797045560
googlers797045560
pharmgkbrs797045560
gwascentralrs797045560
openSNPrs797045560
23andMers797045560
23andMe allrs797045560
SNP Nexus

SNPshotrs797045560
SNPdbers797045560
MSV3drs797045560
GWAS Ctlgrs797045560
Max Magnitude0
ClinVar
Risk rs797045560(-;-)
Alt rs797045560(-;-)
Reference Rs797045560(CAAT;CAAT)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41574630_41574633delTCAA
CLNSRC
CLNACC RCV000193166.1,