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rs1057521737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057521737(C;C)
Make rs1057521737(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41173768
GeneEP300
is asnp
is mentioned by
dbSNPrs1057521737
dbSNP (old)rs1057521737
ClinGenrs1057521737
ebirs1057521737
HLIrs1057521737
Exacrs1057521737
Gnomadrs1057521737
Varsomers1057521737
LitVarrs1057521737
Maprs1057521737
PheGenIrs1057521737
Biobankrs1057521737
1000 genomesrs1057521737
hgdprs1057521737
ensemblrs1057521737
gopubmedrs1057521737
geneviewrs1057521737
scholarrs1057521737
googlers1057521737
pharmgkbrs1057521737
gwascentralrs1057521737
openSNPrs1057521737
23andMers1057521737
23andMe allrs1057521737
SNPshotrs1057521737
SNPdbers1057521737
MSV3drs1057521737
GWAS Ctlgrs1057521737
Max Magnitude0
ClinVar
Risk rs1057521737(C;C)
Alt rs1057521737(C;C)
Reference Rs1057521737(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.41569772T>C
CLNSRC
CLNACC RCV000433287.1, RCV000454987.1,