rs121918320

Orientation

plus

Stabilized

plus

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

Make rs121918320(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127660034

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs121918320
dbSNP (classic)	rs121918320
ClinGen	rs121918320
ebi	rs121918320
HLI	rs121918320
Exac	rs121918320
Gnomad	rs121918320
Varsome	rs121918320
LitVar	rs121918320
Map	rs121918320
PheGenI	rs121918320
Biobank	rs121918320
1000 genomes	rs121918320
hgdp	rs121918320
ensembl	rs121918320
geneview	rs121918320
scholar	rs121918320
google	rs121918320
pharmgkb	rs121918320
gwascentral	rs121918320
openSNP	rs121918320
23andMe	rs121918320
SNPshot	rs121918320
SNPdbe	rs121918320
MSV3d	rs121918320
GWAS Ctlg	rs121918320

Max Magnitude

8

OMIM	602926
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918320(A;A)
Alt	rs121918320(A;A)
Reference	Rs121918320(T;T)
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.130422313T>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007121.2,