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

rs398124438

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs398124438(GG;TGCTAGACAA)
Make rs398124438(TGCTAGACAA;TGCTAGACAA)
ReferenceGRCh38 38.1/141
Chromosome15
Position25370566
GeneUBE3A
is asnp
is mentioned by
dbSNPrs398124438
ebirs398124438
HLIrs398124438
Exacrs398124438
Varsomers398124438
Maprs398124438
PheGenIrs398124438
hapmaprs398124438
1000 genomesrs398124438
hgdprs398124438
ensemblrs398124438
gopubmedrs398124438
geneviewrs398124438
scholarrs398124438
googlers398124438
pharmgkbrs398124438
gwascentralrs398124438
openSNPrs398124438
23andMers398124438
23andMe allrs398124438
SNP Nexus

SNPshotrs398124438
SNPdbers398124438
MSV3drs398124438
GWAS Ctlgrs398124438
Max Magnitude0
ClinVar
Risk rs398124438(TGCTAGACAA;TGCTAGACAA)
Alt rs398124438(TGCTAGACAA;TGCTAGACAA)
Reference rs398124438(GG;GG)
Significance Pathogenic
Disease not provided Angelman syndrome
Variation info
Gene UBE3A
CLNDBN not provided Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615713_25615714delCCinsTTGTCTAGCA
CLNSRC ClinVar
CLNACC RCV000082343.3, RCV000177394.1,