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rs1057519012

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519012(-;G)
Make rs1057519012(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position41147866
GeneEP300
is asnp
is mentioned by
dbSNPrs1057519012
dbSNP (old)rs1057519012
ClinGenrs1057519012
ebirs1057519012
HLIrs1057519012
Exacrs1057519012
Gnomadrs1057519012
Varsomers1057519012
Maprs1057519012
PheGenIrs1057519012
Biobankrs1057519012
1000 genomesrs1057519012
hgdprs1057519012
ensemblrs1057519012
gopubmedrs1057519012
geneviewrs1057519012
scholarrs1057519012
googlers1057519012
pharmgkbrs1057519012
gwascentralrs1057519012
openSNPrs1057519012
23andMers1057519012
23andMe allrs1057519012
SNPshotrs1057519012
SNPdbers1057519012
MSV3drs1057519012
GWAS Ctlgrs1057519012
Max Magnitude0
ClinVar
Risk rs1057519012(G;G)
Alt rs1057519012(G;G)
Reference Rs1057519012(-;-)
Significance Probable-Pathogenic
Disease Microcephaly intellectual deficiency
Variation info
Gene EP300
CLNDBN Microcephaly intellectual deficiency
Reversed 0
HGVS NC_000022.10:g.41543870dupG
CLNSRC
CLNACC RCV000415048.1,