rs587776641

Orientation

plus

Stabilized

plus

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

Make rs587776641(A;A)

Reference

GRCh38 38.1/142

Chromosome

9

Position

127653797

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs587776641
dbSNP (classic)	rs587776641
ClinGen	rs587776641
ebi	rs587776641
HLI	rs587776641
Exac	rs587776641
Gnomad	rs587776641
Varsome	rs587776641
LitVar	rs587776641
Map	rs587776641
PheGenI	rs587776641
Biobank	rs587776641
1000 genomes	rs587776641
hgdp	rs587776641
ensembl	rs587776641
geneview	rs587776641
scholar	rs587776641
google	rs587776641
pharmgkb	rs587776641
gwascentral	rs587776641
openSNP	rs587776641
23andMe	rs587776641
SNPshot	rs587776641
SNPdbe	rs587776641
MSV3d	rs587776641
GWAS Ctlg	rs587776641

Max Magnitude

8

ClinVar
Risk	rs587776641(A;A)
Alt	rs587776641(A;A)
Reference	Rs587776641(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4
Reversed	0
HGVS	NC_000009.11:g.130416076G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000007123.3,