rs587781242

Orientation

minus

Stabilized

minus

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

Make rs587781242(C;C)

Make rs587781242(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

25370810

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs587781242
dbSNP (classic)	rs587781242
ClinGen	rs587781242
ebi	rs587781242
HLI	rs587781242
Exac	rs587781242
Gnomad	rs587781242
Varsome	rs587781242
LitVar	rs587781242
Map	rs587781242
PheGenI	rs587781242
Biobank	rs587781242
1000 genomes	rs587781242
hgdp	rs587781242
ensembl	rs587781242
geneview	rs587781242
scholar	rs587781242
google	rs587781242
pharmgkb	rs587781242
gwascentral	rs587781242
openSNP	rs587781242
23andMe	rs587781242
SNPshot	rs587781242
SNPdbe	rs587781242
MSV3d	rs587781242
GWAS Ctlg	rs587781242

Max Magnitude

0

ClinVar
Risk	rs587781242(C;C)
Alt	rs587781242(C;C)
Reference	Rs587781242(T;T)
Significance	Probable-Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25615957A>G
CLNSRC
CLNACC	RCV000144319.1,