rs587777310

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	8	Early infantile epileptic encephalopathy, type 4
(G;G)	0	common in clinvar

Make rs587777310(A;A)

Reference

GRCh38 38.1/142

Chromosome

9

Position

127668132

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs587777310
dbSNP (classic)	rs587777310
ClinGen	rs587777310
ebi	rs587777310
HLI	rs587777310
Exac	rs587777310
Gnomad	rs587777310
Varsome	rs587777310
LitVar	rs587777310
Map	rs587777310
PheGenI	rs587777310
Biobank	rs587777310
1000 genomes	rs587777310
hgdp	rs587777310
ensembl	rs587777310
geneview	rs587777310
scholar	rs587777310
google	rs587777310
pharmgkb	rs587777310
gwascentral	rs587777310
openSNP	rs587777310
23andMe	rs587777310
SNPshot	rs587777310
SNPdbe	rs587777310
MSV3d	rs587777310
GWAS Ctlg	rs587777310

Max Magnitude

8

ClinVar
Risk	rs587777310(A;A)
Alt	rs587777310(A;A)
Reference	Rs587777310(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4 not provided
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4 not provided
Reversed	0
HGVS	NC_000009.11:g.130430411G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000114939.2, RCV000440506.1,