rs587781220

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Likely miscall if from Ancestry v2 data; otherwise, Angelmann mutation

Make rs587781220(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

25354402

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs587781220
ClinGen	rs587781220
ebi	rs587781220
HLI	rs587781220
Exac	rs587781220
Varsome	rs587781220
Map	rs587781220
PheGenI	rs587781220
hapmap	rs587781220
1000 genomes	rs587781220
hgdp	rs587781220
ensembl	rs587781220
gopubmed	rs587781220
geneview	rs587781220
scholar	rs587781220
google	rs587781220
pharmgkb	rs587781220
gwascentral	rs587781220
openSNP	rs587781220
23andMe	rs587781220
23andMe all	rs587781220
SNP Nexus
SNPshot	rs587781220
SNPdbe	rs587781220
MSV3d	rs587781220
GWAS Ctlg	rs587781220

Max Magnitude

3

ClinVar
Risk	rs587781220(T;T)
Alt	rs587781220(T;T)
Reference	Rs587781220(G;G)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25599549C>A
CLNSRC
CLNACC	RCV000144294.2,