rs1060501722

Orientation

plus

Stabilized

plus

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

Make rs1060501722(A;A)

Make rs1060501722(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127678505

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1060501722
dbSNP (classic)	rs1060501722
ClinGen	rs1060501722
ebi	rs1060501722
HLI	rs1060501722
Exac	rs1060501722
Gnomad	rs1060501722
Varsome	rs1060501722
LitVar	rs1060501722
Map	rs1060501722
PheGenI	rs1060501722
Biobank	rs1060501722
1000 genomes	rs1060501722
hgdp	rs1060501722
ensembl	rs1060501722
geneview	rs1060501722
scholar	rs1060501722
google	rs1060501722
pharmgkb	rs1060501722
gwascentral	rs1060501722
openSNP	rs1060501722
23andMe	rs1060501722
SNPshot	rs1060501722
SNPdbe	rs1060501722
MSV3d	rs1060501722
GWAS Ctlg	rs1060501722

Max Magnitude

0

ClinVar
Risk	rs1060501722(A;A)
Alt	rs1060501722(A;A)
Reference	Rs1060501722(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130440784G>A
CLNSRC
CLNACC	RCV000464099.1,