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rs565779970

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs565779970(C;C)
Make rs565779970(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position41158483
GeneEP300
is asnp
is mentioned by
dbSNPrs565779970
ebirs565779970
HLIrs565779970
Exacrs565779970
Varsomers565779970
Maprs565779970
PheGenIrs565779970
hapmaprs565779970
1000 genomesrs565779970
hgdprs565779970
ensemblrs565779970
gopubmedrs565779970
geneviewrs565779970
scholarrs565779970
googlers565779970
pharmgkbrs565779970
gwascentralrs565779970
openSNPrs565779970
23andMers565779970
23andMe allrs565779970
SNP Nexus

SNPshotrs565779970
SNPdbers565779970
MSV3drs565779970
GWAS Ctlgrs565779970
Max Magnitude0
ClinVar
Risk rs565779970(C;C)
Alt rs565779970(C;C)
Reference rs565779970(T;T)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41554487T>A
CLNSRC
CLNACC RCV000190511.1,