rs121918317

Orientation

plus

Stabilized

plus

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

Make rs121918317(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

127682489

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs121918317
dbSNP (classic)	rs121918317
ClinGen	rs121918317
ebi	rs121918317
HLI	rs121918317
Exac	rs121918317
Gnomad	rs121918317
Varsome	rs121918317
LitVar	rs121918317
Map	rs121918317
PheGenI	rs121918317
Biobank	rs121918317
1000 genomes	rs121918317
hgdp	rs121918317
ensembl	rs121918317
geneview	rs121918317
scholar	rs121918317
google	rs121918317
pharmgkb	rs121918317
gwascentral	rs121918317
openSNP	rs121918317
23andMe	rs121918317
SNPshot	rs121918317
SNPdbe	rs121918317
MSV3d	rs121918317
GWAS Ctlg	rs121918317

Max Magnitude

8

OMIM	602926
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121918317(A;A)
Alt	rs121918317(A;A)
Reference	Rs121918317(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.130444768G>A; NC_000009.11:g.130444768G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007118.2, RCV000494083.1,