rs587784454

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;AT)	8	Early infantile epileptic encephalopathy, type 4
(TA;TA)	0	common in clinvar

Make rs587784454(-;-)

Make rs587784454(AT;AT)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127666256

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs587784454
dbSNP (classic)	rs587784454
ClinGen	rs587784454
ebi	rs587784454
HLI	rs587784454
Exac	rs587784454
Gnomad	rs587784454
Varsome	rs587784454
LitVar	rs587784454
Map	rs587784454
PheGenI	rs587784454
Biobank	rs587784454
1000 genomes	rs587784454
hgdp	rs587784454
ensembl	rs587784454
geneview	rs587784454
scholar	rs587784454
google	rs587784454
pharmgkb	rs587784454
gwascentral	rs587784454
openSNP	rs587784454
23andMe	rs587784454
SNPshot	rs587784454
SNPdbe	rs587784454
MSV3d	rs587784454
GWAS Ctlg	rs587784454

Max Magnitude

8

ClinVar
Risk	rs587784454(-;-)
Alt	rs587784454(-;-)
Reference	Rs587784454(TA;TA)
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.130428535_130428536delAT
CLNSRC
CLNACC	RCV000147706.1,