Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057518002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518002(C;C)
Make rs1057518002(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41177194
GeneEP300
is asnp
is mentioned by
dbSNPrs1057518002
dbSNP (old)rs1057518002
ClinGenrs1057518002
ebirs1057518002
HLIrs1057518002
Exacrs1057518002
Gnomadrs1057518002
Varsomers1057518002
LitVarrs1057518002
Maprs1057518002
PheGenIrs1057518002
Biobankrs1057518002
1000 genomesrs1057518002
hgdprs1057518002
ensemblrs1057518002
gopubmedrs1057518002
geneviewrs1057518002
scholarrs1057518002
googlers1057518002
pharmgkbrs1057518002
gwascentralrs1057518002
openSNPrs1057518002
23andMers1057518002
23andMe allrs1057518002
SNPshotrs1057518002
SNPdbers1057518002
MSV3drs1057518002
GWAS Ctlgrs1057518002
Max Magnitude0
ClinVar
Risk rs1057518002(C;C)
Alt rs1057518002(C;C)
Reference Rs1057518002(T;T)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene EP300
CLNDBN not provided
Reversed 0
HGVS NC_000022.10:g.41573198T>C
CLNSRC
CLNACC RCV000414170.1,