rs1057518985

Orientation

plus

Stabilized

plus

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

Make rs1057518985(C;T)

Make rs1057518985(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

127673233

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs1057518985
dbSNP (classic)	rs1057518985
ClinGen	rs1057518985
ebi	rs1057518985
HLI	rs1057518985
Exac	rs1057518985
Gnomad	rs1057518985
Varsome	rs1057518985
LitVar	rs1057518985
Map	rs1057518985
PheGenI	rs1057518985
Biobank	rs1057518985
1000 genomes	rs1057518985
hgdp	rs1057518985
ensembl	rs1057518985
geneview	rs1057518985
scholar	rs1057518985
google	rs1057518985
pharmgkb	rs1057518985
gwascentral	rs1057518985
openSNP	rs1057518985
23andMe	rs1057518985
SNPshot	rs1057518985
SNPdbe	rs1057518985
MSV3d	rs1057518985
GWAS Ctlg	rs1057518985

Max Magnitude

0

ClinVar
Risk	rs1057518985(T;T)
Alt	rs1057518985(T;T)
Reference	Rs1057518985(C;C)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	STXBP1
CLNDBN	Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.130435512C>T
CLNSRC
CLNACC	RCV000415156.1,