Have questions? Visit https://www.reddit.com/r/SNPedia

rs587781199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs587781199(-;T)
Make rs587781199(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position25370758
GeneUBE3A
is asnp
is mentioned by
dbSNPrs587781199
dbSNP (classic)rs587781199
ClinGenrs587781199
ebirs587781199
HLIrs587781199
Exacrs587781199
Gnomadrs587781199
Varsomers587781199
LitVarrs587781199
Maprs587781199
PheGenIrs587781199
Biobankrs587781199
1000 genomesrs587781199
hgdprs587781199
ensemblrs587781199
geneviewrs587781199
scholarrs587781199
googlers587781199
pharmgkbrs587781199
gwascentralrs587781199
openSNPrs587781199
23andMers587781199
SNPshotrs587781199
SNPdbers587781199
MSV3drs587781199
GWAS Ctlgrs587781199
Max Magnitude0
ClinVar
Risk rs587781199(T;T)
Alt rs587781199(T;T)
Reference Rs587781199(-;-)
Significance Pathogenic
Disease Angelman syndrome
Variation info
Gene UBE3A
CLNDBN Angelman syndrome
Reversed 1
HGVS NC_000015.9:g.25615906dupA
CLNSRC
CLNACC RCV000144273.1,