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rs786200996

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs786200996(-;-)
Make rs786200996(-;CT)
Make rs786200996(CT;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25371627
GeneUBE3A
is asnp
is mentioned by
dbSNPrs786200996
ebirs786200996
HLIrs786200996
Exacrs786200996
Varsomers786200996
Maprs786200996
PheGenIrs786200996
hapmaprs786200996
1000 genomesrs786200996
hgdprs786200996
ensemblrs786200996
gopubmedrs786200996
geneviewrs786200996
scholarrs786200996
googlers786200996
pharmgkbrs786200996
gwascentralrs786200996
openSNPrs786200996
23andMers786200996
23andMe allrs786200996
SNP Nexus

SNPshotrs786200996
SNPdbers786200996
MSV3drs786200996
GWAS Ctlgrs786200996
Max Magnitude0
ClinVar
Risk rs786200996(CT;CT)
Alt rs786200996(CT;CT)
Reference rs786200996(;)
Significance Pathogenic
Disease not provided Angelman syndrome
Variation info
Gene UBE3A
CLNDBN not provided Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25616774_25616775insAG
CLNSRC
CLNACC RCV000154108.2, RCV000177395.1,