rs1057519271

Orientation

minus

Stabilized

minus

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

Make rs1057519271(-;-)

Make rs1057519271(-;TCAC)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

82663149

Gene	AP3B2, CPEB1-AS1

is a	snp
is	mentioned by
dbSNP	rs1057519271
dbSNP (classic)	rs1057519271
ClinGen	rs1057519271
ebi	rs1057519271
HLI	rs1057519271
Exac	rs1057519271
Gnomad	rs1057519271
Varsome	rs1057519271
LitVar	rs1057519271
Map	rs1057519271
PheGenI	rs1057519271
Biobank	rs1057519271
1000 genomes	rs1057519271
hgdp	rs1057519271
ensembl	rs1057519271
geneview	rs1057519271
scholar	rs1057519271
google	rs1057519271
pharmgkb	rs1057519271
gwascentral	rs1057519271
openSNP	rs1057519271
23andMe	rs1057519271
SNPshot	rs1057519271
SNPdbe	rs1057519271
MSV3d	rs1057519271
GWAS Ctlg	rs1057519271

Max Magnitude

0

ClinVar
Risk	rs1057519271(-;-)
Alt	rs1057519271(-;-)
Reference	Rs1057519271(TCAC;TCAC)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	CPEB1-AS1 AP3B2
CLNDBN	Epileptic encephalopathy, early infantile, 48
Reversed	1
HGVS	NC_000015.9:g.83331901_83331904delGTGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415561.1,