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rs137853039

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853039(C;T)
Make rs137853039(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position41141111
GeneEP300
is asnp
is mentioned by
dbSNPrs137853039
ebirs137853039
HLIrs137853039
Exacrs137853039
Varsomers137853039
Maprs137853039
PheGenIrs137853039
hapmaprs137853039
1000 genomesrs137853039
hgdprs137853039
ensemblrs137853039
gopubmedrs137853039
geneviewrs137853039
scholarrs137853039
googlers137853039
pharmgkbrs137853039
gwascentralrs137853039
openSNPrs137853039
23andMers137853039
23andMe allrs137853039
SNP Nexus

SNPshotrs137853039
SNPdbers137853039
MSV3drs137853039
GWAS Ctlgrs137853039
Max Magnitude0
OMIM602700
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853039(T;T)
Alt rs137853039(T;T)
Reference rs137853039(C;C)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41537115C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007285.2,