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rs398124440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTTA;CTTA) 0 common in clinvar
Make rs398124440(-;-)
Make rs398124440(-;CTTA)
ReferenceGRCh38 38.1/141
Chromosome15
Position25339190
GeneUBE3A
is asnp
is mentioned by
dbSNPrs398124440
ebirs398124440
HLIrs398124440
Exacrs398124440
Varsomers398124440
Maprs398124440
PheGenIrs398124440
hapmaprs398124440
1000 genomesrs398124440
hgdprs398124440
ensemblrs398124440
gopubmedrs398124440
geneviewrs398124440
scholarrs398124440
googlers398124440
pharmgkbrs398124440
gwascentralrs398124440
openSNPrs398124440
23andMers398124440
23andMe allrs398124440
SNP Nexus

SNPshotrs398124440
SNPdbers398124440
MSV3drs398124440
GWAS Ctlgrs398124440
Max Magnitude0
ClinVar
Risk rs398124440(;)
Alt rs398124440(;)
Reference rs398124440(CTTA;CTTA)
Significance Pathogenic
Disease not provided Angelman syndrome
Variation info
Gene UBE3A
CLNDBN not provided Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25584337_25584340delTAAG
CLNSRC ClinVar
CLNACC RCV000082347.3, RCV000173915.1,