rs587784455

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs587784455(C;C)

Make rs587784455(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127663208

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs587784455
dbSNP (classic)	rs587784455
ClinGen	rs587784455
ebi	rs587784455
HLI	rs587784455
Exac	rs587784455
Gnomad	rs587784455
Varsome	rs587784455
LitVar	rs587784455
Map	rs587784455
PheGenI	rs587784455
Biobank	rs587784455
1000 genomes	rs587784455
hgdp	rs587784455
ensembl	rs587784455
geneview	rs587784455
scholar	rs587784455
google	rs587784455
pharmgkb	rs587784455
gwascentral	rs587784455
openSNP	rs587784455
23andMe	rs587784455
SNPshot	rs587784455
SNPdbe	rs587784455
MSV3d	rs587784455
GWAS Ctlg	rs587784455

Max Magnitude

0

ClinVar
Risk	rs587784455(C;C)
Alt	rs587784455(C;C)
Reference	Rs587784455(T;T)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy 4
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4
Reversed	0
HGVS	NC_000009.11:g.130425487T>C
CLNSRC
CLNACC	RCV000147709.1,