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rs797046085

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797046085(-;A)
Make rs797046085(A;A)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position25354569
GeneUBE3A
is asnp
is mentioned by
dbSNPrs797046085
dbSNP (classic)rs797046085
ClinGenrs797046085
ebirs797046085
HLIrs797046085
Exacrs797046085
Gnomadrs797046085
Varsomers797046085
LitVarrs797046085
Maprs797046085
PheGenIrs797046085
Biobankrs797046085
1000 genomesrs797046085
hgdprs797046085
ensemblrs797046085
geneviewrs797046085
scholarrs797046085
googlers797046085
pharmgkbrs797046085
gwascentralrs797046085
openSNPrs797046085
23andMers797046085
SNPshotrs797046085
SNPdbers797046085
MSV3drs797046085
GWAS Ctlgrs797046085
Max Magnitude0
ClinVar
Risk rs797046085(A;A)
Alt rs797046085(A;A)
Reference Rs797046085(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25599717dupT
CLNSRC
CLNACC RCV000194009.1,