rs1057518770

Orientation

minus

Stabilized

minus

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

Make rs1057518770(A;A)

Make rs1057518770(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

25354536

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs1057518770
dbSNP (classic)	rs1057518770
ClinGen	rs1057518770
ebi	rs1057518770
HLI	rs1057518770
Exac	rs1057518770
Gnomad	rs1057518770
Varsome	rs1057518770
LitVar	rs1057518770
Map	rs1057518770
PheGenI	rs1057518770
Biobank	rs1057518770
1000 genomes	rs1057518770
hgdp	rs1057518770
ensembl	rs1057518770
geneview	rs1057518770
scholar	rs1057518770
google	rs1057518770
pharmgkb	rs1057518770
gwascentral	rs1057518770
openSNP	rs1057518770
23andMe	rs1057518770
SNPshot	rs1057518770
SNPdbe	rs1057518770
MSV3d	rs1057518770
GWAS Ctlg	rs1057518770

Max Magnitude

0

ClinVar
Risk	rs1057518770(A;A)
Alt	rs1057518770(A;A)
Reference	Rs1057518770(G;G)
Significance	Pathogenic
Disease	Abnormality of the corpus callosum EEG abnormality Expressive language delay Global developmental delay Poor speech Seizures
Variation	info
Gene	UBE3A
CLNDBN	Abnormality of the corpus callosum EEG abnormality Expressive language delay Global developmental delay Poor speech Seizures
Reversed	1
HGVS	NC_000015.9:g.25599683C>T
CLNSRC
CLNACC	RCV000415459.1,