rs587781213

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs587781213(C;T)

Make rs587781213(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

25355984

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs587781213
dbSNP (old)	rs587781213
ClinGen	rs587781213
ebi	rs587781213
HLI	rs587781213
Exac	rs587781213
Gnomad	rs587781213
Varsome	rs587781213
Map	rs587781213
PheGenI	rs587781213
Biobank	rs587781213
1000 genomes	rs587781213
hgdp	rs587781213
ensembl	rs587781213
gopubmed	rs587781213
geneview	rs587781213
scholar	rs587781213
google	rs587781213
pharmgkb	rs587781213
gwascentral	rs587781213
openSNP	rs587781213
23andMe	rs587781213
23andMe all	rs587781213
SNP Nexus
SNPshot	rs587781213
SNPdbe	rs587781213
MSV3d	rs587781213
GWAS Ctlg	rs587781213

Max Magnitude

0

ClinVar
Risk	rs587781213(T;T)
Alt	rs587781213(T;T)
Reference	Rs587781213(C;C)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25601131G>A
CLNSRC
CLNACC	RCV000144287.1,