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rs1057517732

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517732(G;G)
Make rs1057517732(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41176250
GeneEP300
is asnp
is mentioned by
dbSNPrs1057517732
dbSNP (classic)rs1057517732
ClinGenrs1057517732
ebirs1057517732
HLIrs1057517732
Exacrs1057517732
Gnomadrs1057517732
Varsomers1057517732
LitVarrs1057517732
Maprs1057517732
PheGenIrs1057517732
Biobankrs1057517732
1000 genomesrs1057517732
hgdprs1057517732
ensemblrs1057517732
geneviewrs1057517732
scholarrs1057517732
googlers1057517732
pharmgkbrs1057517732
gwascentralrs1057517732
openSNPrs1057517732
23andMers1057517732
23andMe allrs1057517732
SNPshotrs1057517732
SNPdbers1057517732
MSV3drs1057517732
GWAS Ctlgrs1057517732
Max Magnitude0
ClinVar
Risk rs1057517732(G;G)
Alt rs1057517732(G;G)
Reference Rs1057517732(T;T)
Significance Pathogenic
Disease not provided Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN not provided Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41572254T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000414599.1, RCV000433095.1,