rs1057518123

Orientation

plus

Stabilized

plus

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

Make rs1057518123(G;T)

Make rs1057518123(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127682407

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057518123
dbSNP (classic)	rs1057518123
ClinGen	rs1057518123
ebi	rs1057518123
HLI	rs1057518123
Exac	rs1057518123
Gnomad	rs1057518123
Varsome	rs1057518123
LitVar	rs1057518123
Map	rs1057518123
PheGenI	rs1057518123
Biobank	rs1057518123
1000 genomes	rs1057518123
hgdp	rs1057518123
ensembl	rs1057518123
geneview	rs1057518123
scholar	rs1057518123
google	rs1057518123
pharmgkb	rs1057518123
gwascentral	rs1057518123
openSNP	rs1057518123
23andMe	rs1057518123
SNPshot	rs1057518123
SNPdbe	rs1057518123
MSV3d	rs1057518123
GWAS Ctlg	rs1057518123

Max Magnitude

0

ClinVar
Risk	rs1057518123(T;T)
Alt	rs1057518123(T;T)
Reference	Rs1057518123(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	STXBP1
CLNDBN	not provided
Reversed	0
HGVS	NC_000009.11:g.130444686G>T
CLNSRC
CLNACC	RCV000412866.1,