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rs587781214

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs587781214(-;-)
Make rs587781214(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25355984
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781214
ebirs587781214
HLIrs587781214
Exacrs587781214
Varsomers587781214
Maprs587781214
PheGenIrs587781214
hapmaprs587781214
1000 genomesrs587781214
hgdprs587781214
ensemblrs587781214
gopubmedrs587781214
geneviewrs587781214
scholarrs587781214
googlers587781214
pharmgkbrs587781214
gwascentralrs587781214
openSNPrs587781214
23andMers587781214
23andMe allrs587781214
SNP Nexus

SNPshotrs587781214
SNPdbers587781214
MSV3drs587781214
GWAS Ctlgrs587781214
Max Magnitude0
ClinVar
Risk rs587781214(;)
Alt rs587781214(;)
Reference rs587781214(C;C)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601131delG
CLNSRC
CLNACC RCV000144288.1,