rs587784453

Orientation

plus

Stabilized

plus

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

Make rs587784453(A;G)

Make rs587784453(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127666236

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs587784453
dbSNP (classic)	rs587784453
ClinGen	rs587784453
ebi	rs587784453
HLI	rs587784453
Exac	rs587784453
Gnomad	rs587784453
Varsome	rs587784453
LitVar	rs587784453
Map	rs587784453
PheGenI	rs587784453
Biobank	rs587784453
1000 genomes	rs587784453
hgdp	rs587784453
ensembl	rs587784453
geneview	rs587784453
scholar	rs587784453
google	rs587784453
pharmgkb	rs587784453
gwascentral	rs587784453
openSNP	rs587784453
23andMe	rs587784453
SNPshot	rs587784453
SNPdbe	rs587784453
MSV3d	rs587784453
GWAS Ctlg	rs587784453

Max Magnitude

0

ClinVar
Risk	rs587784453(G;G)
Alt	rs587784453(G;G)
Reference	Rs587784453(A;A)
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.130428515A>G
CLNSRC
CLNACC	RCV000147705.1,