rs1057518989

Orientation

plus

Stabilized

plus

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

Make rs1057518989(-;-)

Make rs1057518989(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127673223

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057518989
dbSNP (classic)	rs1057518989
ClinGen	rs1057518989
ebi	rs1057518989
HLI	rs1057518989
Exac	rs1057518989
Gnomad	rs1057518989
Varsome	rs1057518989
LitVar	rs1057518989
Map	rs1057518989
PheGenI	rs1057518989
Biobank	rs1057518989
1000 genomes	rs1057518989
hgdp	rs1057518989
ensembl	rs1057518989
geneview	rs1057518989
scholar	rs1057518989
google	rs1057518989
pharmgkb	rs1057518989
gwascentral	rs1057518989
openSNP	rs1057518989
23andMe	rs1057518989
SNPshot	rs1057518989
SNPdbe	rs1057518989
MSV3d	rs1057518989
GWAS Ctlg	rs1057518989

Max Magnitude

0

ClinVar
Risk	rs1057518989(-;-)
Alt	rs1057518989(-;-)
Reference	Rs1057518989(T;T)
Significance	Probable-Pathogenic
Disease	Severe intellectual deficiency
Variation	info
Gene	STXBP1
CLNDBN	Severe intellectual deficiency
Reversed	0
HGVS	NC_000009.11:g.130435502delT
CLNSRC
CLNACC	RCV000415268.1,