rs1057518777

Orientation

minus

Stabilized

minus

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

Make rs1057518777(-;CTACATCTCATAC)

Make rs1057518777(CTACATCTCATAC;CTACATCTCATAC)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

25339239

Gene

UBE3A

is a	snp
is	mentioned by
dbSNP	rs1057518777
dbSNP (classic)	rs1057518777
ClinGen	rs1057518777
ebi	rs1057518777
HLI	rs1057518777
Exac	rs1057518777
Gnomad	rs1057518777
Varsome	rs1057518777
LitVar	rs1057518777
Map	rs1057518777
PheGenI	rs1057518777
Biobank	rs1057518777
1000 genomes	rs1057518777
hgdp	rs1057518777
ensembl	rs1057518777
geneview	rs1057518777
scholar	rs1057518777
google	rs1057518777
pharmgkb	rs1057518777
gwascentral	rs1057518777
openSNP	rs1057518777
23andMe	rs1057518777
SNPshot	rs1057518777
SNPdbe	rs1057518777
MSV3d	rs1057518777
GWAS Ctlg	rs1057518777

Max Magnitude

0

ClinVar
Risk	rs1057518777(CTACATCTCATAC;CTACATCTCATAC)
Alt	rs1057518777(CTACATCTCATAC;CTACATCTCATAC)
Reference	Rs1057518777(-;-)
Significance	Probable-Pathogenic
Disease	Developmental delay Intellectual disability
Variation	info
Gene	UBE3A
CLNDBN	Developmental delay Intellectual disability
Reversed	1
HGVS	NC_000015.9:g.25584387_25584399dupGTATGAGATGTAG
CLNSRC
CLNACC	RCV000414808.1,