rs1060501724

Orientation

plus

Stabilized

plus

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

Make rs1060501724(A;C)

Make rs1060501724(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127661161

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1060501724
dbSNP (classic)	rs1060501724
ClinGen	rs1060501724
ebi	rs1060501724
HLI	rs1060501724
Exac	rs1060501724
Gnomad	rs1060501724
Varsome	rs1060501724
LitVar	rs1060501724
Map	rs1060501724
PheGenI	rs1060501724
Biobank	rs1060501724
1000 genomes	rs1060501724
hgdp	rs1060501724
ensembl	rs1060501724
geneview	rs1060501724
scholar	rs1060501724
google	rs1060501724
pharmgkb	rs1060501724
gwascentral	rs1060501724
openSNP	rs1060501724
23andMe	rs1060501724
SNPshot	rs1060501724
SNPdbe	rs1060501724
MSV3d	rs1060501724
GWAS Ctlg	rs1060501724

Max Magnitude

0

ClinVar
Risk	rs1060501724(C;C)
Alt	rs1060501724(C;C)
Reference	Rs1060501724(A;A)
Significance	Probable-Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130423440A>C
CLNSRC
CLNACC	RCV000456399.1,