rs1057519062

Orientation

minus

Stabilized

minus

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

Make rs1057519062(-;-)

Make rs1057519062(-;CAAAGAAAAACTTAAAG)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

25339187

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs1057519062
dbSNP (classic)	rs1057519062
ClinGen	rs1057519062
ebi	rs1057519062
HLI	rs1057519062
Exac	rs1057519062
Gnomad	rs1057519062
Varsome	rs1057519062
LitVar	rs1057519062
Map	rs1057519062
PheGenI	rs1057519062
Biobank	rs1057519062
1000 genomes	rs1057519062
hgdp	rs1057519062
ensembl	rs1057519062
geneview	rs1057519062
scholar	rs1057519062
google	rs1057519062
pharmgkb	rs1057519062
gwascentral	rs1057519062
openSNP	rs1057519062
23andMe	rs1057519062
SNPshot	rs1057519062
SNPdbe	rs1057519062
MSV3d	rs1057519062
GWAS Ctlg	rs1057519062

Max Magnitude

0

ClinVar
Risk	rs1057519062(-;-)
Alt	rs1057519062(-;-)
Reference	Rs1057519062(CAAAGAAAAACTTAAAG;CAAAGAAAAACTTAAAG)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25584334_25584350del17
CLNSRC
CLNACC	RCV000416334.1,