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rs875989807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAGCAGCAACAG;CAGCAGCAACAG) 0 common in clinvar
(GCAACAGCAGCA;GCAACAGCAGCA) 0 common in clinvar
Make rs875989807(-;-)
Make rs875989807(-;CAGCAGCAACAG)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41178285
GeneEP300
is asnp
is mentioned by
dbSNPrs875989807
dbSNP (old)rs875989807
ClinGenrs875989807
ebirs875989807
HLIrs875989807
Exacrs875989807
Gnomadrs875989807
Varsomers875989807
Maprs875989807
PheGenIrs875989807
Biobankrs875989807
1000 genomesrs875989807
hgdprs875989807
ensemblrs875989807
gopubmedrs875989807
geneviewrs875989807
scholarrs875989807
googlers875989807
pharmgkbrs875989807
gwascentralrs875989807
openSNPrs875989807
23andMers875989807
23andMe allrs875989807
SNP Nexus

SNPshotrs875989807
SNPdbers875989807
MSV3drs875989807
GWAS Ctlgrs875989807
Max Magnitude0
ClinVar
Risk rs875989807(-;-) Rs875989807(GCAACAGCAGCA;GCAACAGCAGCA)
Alt rs875989807(-;-) Rs875989807(GCAACAGCAGCA;GCAACAGCAGCA)
Reference Rs875989807(CAGCAGCAACAG;CAGCAGCAACAG)
Significance Probable-Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41574289_41574300delCAGCAGCAACAG
CLNSRC
CLNACC RCV000211093.1,