rs121918318

Orientation

plus

Stabilized

plus

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

Make rs121918318(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127663314

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs121918318
dbSNP (classic)	rs121918318
ClinGen	rs121918318
ebi	rs121918318
HLI	rs121918318
Exac	rs121918318
Gnomad	rs121918318
Varsome	rs121918318
LitVar	rs121918318
Map	rs121918318
PheGenI	rs121918318
Biobank	rs121918318
1000 genomes	rs121918318
hgdp	rs121918318
ensembl	rs121918318
geneview	rs121918318
scholar	rs121918318
google	rs121918318
pharmgkb	rs121918318
gwascentral	rs121918318
openSNP	rs121918318
23andMe	rs121918318
SNPshot	rs121918318
SNPdbe	rs121918318
MSV3d	rs121918318
GWAS Ctlg	rs121918318

Max Magnitude

8

OMIM	602926
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918318(A;A)
Alt	rs121918318(A;A)
Reference	Rs121918318(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.130425593G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007119.2,