rs751170778

Orientation

plus

Stabilized

plus

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

Make rs751170778(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

9

Position

127668083

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs751170778
dbSNP (classic)	rs751170778
ClinGen	rs751170778
ebi	rs751170778
HLI	rs751170778
Exac	rs751170778
Gnomad	rs751170778
Varsome	rs751170778
LitVar	rs751170778
Map	rs751170778
PheGenI	rs751170778
Biobank	rs751170778
1000 genomes	rs751170778
hgdp	rs751170778
ensembl	rs751170778
geneview	rs751170778
scholar	rs751170778
google	rs751170778
pharmgkb	rs751170778
gwascentral	rs751170778
openSNP	rs751170778
23andMe	rs751170778
SNPshot	rs751170778
SNPdbe	rs751170778
MSV3d	rs751170778
GWAS Ctlg	rs751170778

Max Magnitude

8

ClinVar
Risk	rs751170778(C;C) rs751170778(G;G)
Alt	rs751170778(C;C) rs751170778(G;G)
Reference	Rs751170778(T;T)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130430362T>G
CLNSRC
CLNACC	RCV000232712.1,