rs775024756

Orientation

plus

Stabilized

plus

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

Make rs775024756(A;A)

Make rs775024756(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

82689223

Gene	AP3B2, CPEB1-AS1

is a	snp
is	mentioned by
dbSNP	rs775024756
dbSNP (classic)	rs775024756
ClinGen	rs775024756
ebi	rs775024756
HLI	rs775024756
Exac	rs775024756
Gnomad	rs775024756
Varsome	rs775024756
LitVar	rs775024756
Map	rs775024756
PheGenI	rs775024756
Biobank	rs775024756
1000 genomes	rs775024756
hgdp	rs775024756
ensembl	rs775024756
geneview	rs775024756
scholar	rs775024756
google	rs775024756
pharmgkb	rs775024756
gwascentral	rs775024756
openSNP	rs775024756
23andMe	rs775024756
SNPshot	rs775024756
SNPdbe	rs775024756
MSV3d	rs775024756
GWAS Ctlg	rs775024756

Max Magnitude

0

ClinVar
Risk	rs775024756(A;A)
Alt	rs775024756(A;A)
Reference	Rs775024756(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	CPEB1-AS1 AP3B2
CLNDBN	Epileptic encephalopathy, early infantile, 48
Reversed	0
HGVS	NC_000015.9:g.83357975G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415580.1,