rs1060501723

Orientation

plus

Stabilized

plus

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

Make rs1060501723(-;-)

Make rs1060501723(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127660048

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1060501723
dbSNP (classic)	rs1060501723
ClinGen	rs1060501723
ebi	rs1060501723
HLI	rs1060501723
Exac	rs1060501723
Gnomad	rs1060501723
Varsome	rs1060501723
LitVar	rs1060501723
Map	rs1060501723
PheGenI	rs1060501723
Biobank	rs1060501723
1000 genomes	rs1060501723
hgdp	rs1060501723
ensembl	rs1060501723
geneview	rs1060501723
scholar	rs1060501723
google	rs1060501723
pharmgkb	rs1060501723
gwascentral	rs1060501723
openSNP	rs1060501723
23andMe	rs1060501723
SNPshot	rs1060501723
SNPdbe	rs1060501723
MSV3d	rs1060501723
GWAS Ctlg	rs1060501723

Max Magnitude

0

ClinVar
Risk	rs1060501723(-;-)
Alt	rs1060501723(-;-)
Reference	Rs1060501723(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130422327delA
CLNSRC
CLNACC	RCV000470907.1,