rs886041978

Orientation

plus

Stabilized

plus

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

Make rs886041978(C;C)

Chromosome

9

Position

127668188

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs886041978
dbSNP (classic)	rs886041978
ClinGen	rs886041978
ebi	rs886041978
HLI	rs886041978
Exac	rs886041978
Gnomad	rs886041978
Varsome	rs886041978
LitVar	rs886041978
Map	rs886041978
PheGenI	rs886041978
Biobank	rs886041978
1000 genomes	rs886041978
hgdp	rs886041978
ensembl	rs886041978
geneview	rs886041978
scholar	rs886041978
google	rs886041978
pharmgkb	rs886041978
gwascentral	rs886041978
openSNP	rs886041978
23andMe	rs886041978
SNPshot	rs886041978
SNPdbe	rs886041978
MSV3d	rs886041978
GWAS Ctlg	rs886041978

Max Magnitude

8

ClinVar
Risk	rs886041978(A;A) rs886041978(C;C)
Alt	rs886041978(A;A) rs886041978(C;C)
Reference	Rs886041978(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.130430467G>A; NC_000009.11:g.130430467G>C
CLNSRC
CLNACC	RCV000415793.1, RCV000321668.1,