rs587781219

Orientation

minus

Stabilized

minus

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

Make rs587781219(C;T)

Make rs587781219(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

25354414

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs587781219
ClinGen	rs587781219
ebi	rs587781219
HLI	rs587781219
Exac	rs587781219
Varsome	rs587781219
Map	rs587781219
PheGenI	rs587781219
hapmap	rs587781219
1000 genomes	rs587781219
hgdp	rs587781219
ensembl	rs587781219
gopubmed	rs587781219
geneview	rs587781219
scholar	rs587781219
google	rs587781219
pharmgkb	rs587781219
gwascentral	rs587781219
openSNP	rs587781219
23andMe	rs587781219
23andMe all	rs587781219
SNP Nexus
SNPshot	rs587781219
SNPdbe	rs587781219
MSV3d	rs587781219
GWAS Ctlg	rs587781219

Max Magnitude

0

ClinVar
Risk	rs587781219(T;T)
Alt	rs587781219(T;T)
Reference	Rs587781219(C;C)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25599561G>A
CLNSRC
CLNACC	RCV000144293.1,