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rs1057519375

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1057519375(-;-)
Make rs1057519375(-;CA)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41178933
GeneEP300
is asnp
is mentioned by
dbSNPrs1057519375
dbSNP (old)rs1057519375
ClinGenrs1057519375
ebirs1057519375
HLIrs1057519375
Exacrs1057519375
Gnomadrs1057519375
Varsomers1057519375
LitVarrs1057519375
Maprs1057519375
PheGenIrs1057519375
Biobankrs1057519375
1000 genomesrs1057519375
hgdprs1057519375
ensemblrs1057519375
gopubmedrs1057519375
geneviewrs1057519375
scholarrs1057519375
googlers1057519375
pharmgkbrs1057519375
gwascentralrs1057519375
openSNPrs1057519375
23andMers1057519375
23andMe allrs1057519375
SNPshotrs1057519375
SNPdbers1057519375
MSV3drs1057519375
GWAS Ctlgrs1057519375
Max Magnitude0
ClinVar
Risk rs1057519375(-;-)
Alt rs1057519375(-;-)
Reference Rs1057519375(CA;CA)
Significance Pathogenic
Disease Rubinstein-Taybi syndrome 2
Variation info
Gene EP300
CLNDBN Rubinstein-Taybi syndrome 2
Reversed 0
HGVS NC_000022.10:g.41574937_41574938delCA
CLNSRC
CLNACC RCV000416791.1,