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rs587781211

From SNPedia

Orientationminus
Geno Mag Summary
(CATGATGA;CATGATGA) 0 common in clinvar
Make rs587781211(-;-)
Make rs587781211(-;CATGATGA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25355993
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781211
ebirs587781211
HLIrs587781211
Exacrs587781211
Varsomers587781211
Maprs587781211
PheGenIrs587781211
hapmaprs587781211
1000 genomesrs587781211
hgdprs587781211
ensemblrs587781211
gopubmedrs587781211
geneviewrs587781211
scholarrs587781211
googlers587781211
pharmgkbrs587781211
gwascentralrs587781211
openSNPrs587781211
23andMers587781211
23andMe allrs587781211
SNP Nexus

SNPshotrs587781211
SNPdbers587781211
MSV3drs587781211
GWAS Ctlgrs587781211
Max Magnitude0
ClinVar
Risk rs587781211(;)
Alt rs587781211(;)
Reference rs587781211(CATGATGA;CATGATGA)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25601140_25601147delTCATCATG
CLNSRC
CLNACC RCV000144285.1,