rs111033594

Orientation

minus

Stabilized

minus

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

Make rs111033594(C;T)

Make rs111033594(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

25370865

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs111033594
dbSNP (classic)	rs111033594
ClinGen	rs111033594
ebi	rs111033594
HLI	rs111033594
Exac	rs111033594
Gnomad	rs111033594
Varsome	rs111033594
LitVar	rs111033594
Map	rs111033594
PheGenI	rs111033594
Biobank	rs111033594
1000 genomes	rs111033594
hgdp	rs111033594
ensembl	rs111033594
geneview	rs111033594
scholar	rs111033594
google	rs111033594
pharmgkb	rs111033594
gwascentral	rs111033594
openSNP	rs111033594
23andMe	rs111033594
SNPshot	rs111033594
SNPdbe	rs111033594
MSV3d	rs111033594
GWAS Ctlg	rs111033594

Max Magnitude

0

OMIM	601623
Desc
Variant	0004
Related	also

ClinVar
Risk	rs111033594(T;T)
Alt	rs111033594(T;T)
Reference	Rs111033594(C;C)
Significance	Pathogenic
Disease	Angelman syndrome
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome
Reversed	1
HGVS	NC_000015.9:g.25616012G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008430.3,