rs796053335

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(I;I)	0	common genotype

Make rs796053335(-;GCATGC)

Make rs796053335(GCATGC;GCATGC)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

128632292

Gene

SPTAN1

is a	snp
is	mentioned by
dbSNP	rs796053335
dbSNP (classic)	rs796053335
ClinGen	rs796053335
ebi	rs796053335
HLI	rs796053335
Exac	rs796053335
Gnomad	rs796053335
Varsome	rs796053335
LitVar	rs796053335
Map	rs796053335
PheGenI	rs796053335
Biobank	rs796053335
1000 genomes	rs796053335
hgdp	rs796053335
ensembl	rs796053335
geneview	rs796053335
scholar	rs796053335
google	rs796053335
pharmgkb	rs796053335
gwascentral	rs796053335
openSNP	rs796053335
23andMe	rs796053335
SNPshot	rs796053335
SNPdbe	rs796053335
MSV3d	rs796053335
GWAS Ctlg	rs796053335

Max Magnitude

0

ClinVar
Risk	rs796053335(GCATGC;GCATGC)
Alt	rs796053335(GCATGC;GCATGC)
Reference	Rs796053335(-;-)
Significance	Pathogenic
Disease	not provided Epileptic encephalopathy
Variation	info
Gene	SPTAN1
CLNDBN	not provided Epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.131394566_131394571dupGCATGC
CLNSRC
CLNACC	RCV000189545.1, RCV000416988.1,