rs1057519272

Orientation

minus

Stabilized

minus

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

Make rs1057519272(-;-)

Make rs1057519272(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

82666762

Gene	AP3B2, CPEB1-AS1

is a	snp
is	mentioned by
dbSNP	rs1057519272
dbSNP (classic)	rs1057519272
ClinGen	rs1057519272
ebi	rs1057519272
HLI	rs1057519272
Exac	rs1057519272
Gnomad	rs1057519272
Varsome	rs1057519272
LitVar	rs1057519272
Map	rs1057519272
PheGenI	rs1057519272
Biobank	rs1057519272
1000 genomes	rs1057519272
hgdp	rs1057519272
ensembl	rs1057519272
geneview	rs1057519272
scholar	rs1057519272
google	rs1057519272
pharmgkb	rs1057519272
gwascentral	rs1057519272
openSNP	rs1057519272
23andMe	rs1057519272
SNPshot	rs1057519272
SNPdbe	rs1057519272
MSV3d	rs1057519272
GWAS Ctlg	rs1057519272

Max Magnitude

0

ClinVar
Risk	rs1057519272(-;-)
Alt	rs1057519272(-;-)
Reference	Rs1057519272(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	CPEB1-AS1 AP3B2
CLNDBN	Epileptic encephalopathy, early infantile, 48
Reversed	1
HGVS	NC_000015.9:g.83335514delC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415523.2,