rs76794400

Orientation

plus

Stabilized

plus

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

Make rs76794400(C;C)

Make rs76794400(C;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

25339138

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs76794400
dbSNP (classic)	rs76794400
ClinGen	rs76794400
ebi	rs76794400
HLI	rs76794400
Exac	rs76794400
Gnomad	rs76794400
Varsome	rs76794400
LitVar	rs76794400
Map	rs76794400
PheGenI	rs76794400
Biobank	rs76794400
1000 genomes	rs76794400
hgdp	rs76794400
ensembl	rs76794400
geneview	rs76794400
scholar	rs76794400
google	rs76794400
pharmgkb	rs76794400
gwascentral	rs76794400
openSNP	rs76794400
23andMe	rs76794400
SNPshot	rs76794400
SNPdbe	rs76794400
MSV3d	rs76794400
GWAS Ctlg	rs76794400

Max Magnitude

0

ClinVar
Risk	rs76794400(A;A) rs76794400(C;C)
Alt	rs76794400(A;A) rs76794400(C;C)
Reference	Rs76794400(T;T)
Significance	Pathogenic
Disease	Angelman syndrome not specified not provided
Variation	info
Gene	UBE3A
CLNDBN	Angelman syndrome not specified not provided
Reversed	0
HGVS	NC_000015.9:g.25584285T>A; NC_000015.9:g.25584285T>C
CLNSRC	ClinVar Emory University GeneDx University of Chicago
CLNACC	RCV000144554.1, RCV000082348.6, RCV000443306.1, RCV000470827.1,