rs727504173

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	8	Early infantile epileptic encephalopathy, type 4

Make rs727504173(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

127672117

Gene

STXBP1

is a	snp
is	mentioned by
dbSNP	rs727504173
dbSNP (classic)	rs727504173
ClinGen	rs727504173
ebi	rs727504173
HLI	rs727504173
Exac	rs727504173
Gnomad	rs727504173
Varsome	rs727504173
LitVar	rs727504173
Map	rs727504173
PheGenI	rs727504173
Biobank	rs727504173
1000 genomes	rs727504173
hgdp	rs727504173
ensembl	rs727504173
geneview	rs727504173
scholar	rs727504173
google	rs727504173
pharmgkb	rs727504173
gwascentral	rs727504173
openSNP	rs727504173
23andMe	rs727504173
SNPshot	rs727504173
SNPdbe	rs727504173
MSV3d	rs727504173
GWAS Ctlg	rs727504173

Max Magnitude

8

ClinVar
Risk	rs727504173(C;C) rs727504173(T;T)
Alt	rs727504173(C;C) rs727504173(T;T)
Reference	Rs727504173(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 4 not provided
Variation	info
Gene	STXBP1
CLNDBN	Early infantile epileptic encephalopathy 4 not provided
Reversed	0
HGVS	NC_000009.11:g.130434396G>C; NC_000009.11:g.130434396G>T
CLNSRC	HGMD
CLNACC	RCV000193347.1, RCV000153997.3,