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rs587781207

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587781207(-;-)
Make rs587781207(-;GTTT)
Make rs587781207(GTTT;GTTT)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25360433
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781207
ebirs587781207
HLIrs587781207
Exacrs587781207
Varsomers587781207
Maprs587781207
PheGenIrs587781207
hapmaprs587781207
1000 genomesrs587781207
hgdprs587781207
ensemblrs587781207
gopubmedrs587781207
geneviewrs587781207
scholarrs587781207
googlers587781207
pharmgkbrs587781207
gwascentralrs587781207
openSNPrs587781207
23andMers587781207
23andMe allrs587781207
SNP Nexus

SNPshotrs587781207
SNPdbers587781207
MSV3drs587781207
GWAS Ctlgrs587781207
Max Magnitude0
ClinVar
Risk rs587781207(GTTT;GTTT)
Alt rs587781207(GTTT;GTTT)
Reference rs587781207(;)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25605581_25605584dupAAAC
CLNSRC
CLNACC RCV000144281.1,