rs397515489

Orientation

plus

Stabilized

plus

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

Make rs397515489(C;T)

Make rs397515489(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43403222

Gene

SZT2

is a	snp
is	mentioned by
dbSNP	rs397515489
dbSNP (classic)	rs397515489
ClinGen	rs397515489
ebi	rs397515489
HLI	rs397515489
Exac	rs397515489
Gnomad	rs397515489
Varsome	rs397515489
LitVar	rs397515489
Map	rs397515489
PheGenI	rs397515489
Biobank	rs397515489
1000 genomes	rs397515489
hgdp	rs397515489
ensembl	rs397515489
geneview	rs397515489
scholar	rs397515489
google	rs397515489
pharmgkb	rs397515489
gwascentral	rs397515489
openSNP	rs397515489
23andMe	rs397515489
SNPshot	rs397515489
SNPdbe	rs397515489
MSV3d	rs397515489
GWAS Ctlg	rs397515489

Max Magnitude

0

ClinVar
Risk	rs397515489(T;T)
Alt	rs397515489(T;T)
Reference	Rs397515489(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 18
Variation	info
Gene	SZT2
CLNDBN	Early infantile epileptic encephalopathy 18
Reversed	0
HGVS	NC_000001.10:g.43868893C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000057518.3,