rs397515490

Orientation

plus

Stabilized

plus

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

Make rs397515490(C;T)

Make rs397515490(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

43423153

Gene

SZT2

is a	snp
is	mentioned by
dbSNP	rs397515490
dbSNP (classic)	rs397515490
ClinGen	rs397515490
ebi	rs397515490
HLI	rs397515490
Exac	rs397515490
Gnomad	rs397515490
Varsome	rs397515490
LitVar	rs397515490
Map	rs397515490
PheGenI	rs397515490
Biobank	rs397515490
1000 genomes	rs397515490
hgdp	rs397515490
ensembl	rs397515490
geneview	rs397515490
scholar	rs397515490
google	rs397515490
pharmgkb	rs397515490
gwascentral	rs397515490
openSNP	rs397515490
23andMe	rs397515490
SNPshot	rs397515490
SNPdbe	rs397515490
MSV3d	rs397515490
GWAS Ctlg	rs397515490

Max Magnitude

0

ClinVar
Risk	rs397515490(T;T)
Alt	rs397515490(T;T)
Reference	Rs397515490(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.43888824C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000057519.4,