rs587781243

Orientation

minus

Stabilized

minus

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

Make rs587781243(C;C)

Make rs587781243(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

25370684

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs587781243
dbSNP (classic)	rs587781243
ClinGen	rs587781243
ebi	rs587781243
HLI	rs587781243
Exac	rs587781243
Gnomad	rs587781243
Varsome	rs587781243
LitVar	rs587781243
Map	rs587781243
PheGenI	rs587781243
Biobank	rs587781243
1000 genomes	rs587781243
hgdp	rs587781243
ensembl	rs587781243
geneview	rs587781243
scholar	rs587781243
google	rs587781243
pharmgkb	rs587781243
gwascentral	rs587781243
openSNP	rs587781243
23andMe	rs587781243
SNPshot	rs587781243
SNPdbe	rs587781243
MSV3d	rs587781243
GWAS Ctlg	rs587781243

Max Magnitude

0

ClinVar
Risk	rs587781243(C;C)
Alt	rs587781243(C;C)
Reference	Rs587781243(G;G)
Significance	Probable-Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25615831C>G
CLNSRC
CLNACC	RCV000144320.1,