rs398122865

Orientation

plus

Stabilized

plus

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

Make rs398122865(-;-)

Make rs398122865(-;AGC)

Reference

GRCh38 38.1/141

Chromosome

9

Position

128627414

Gene

SPTAN1

is a	snp
is	mentioned by
dbSNP	rs398122865
dbSNP (classic)	rs398122865
ClinGen	rs398122865
ebi	rs398122865
HLI	rs398122865
Exac	rs398122865
Gnomad	rs398122865
Varsome	rs398122865
LitVar	rs398122865
Map	rs398122865
PheGenI	rs398122865
Biobank	rs398122865
1000 genomes	rs398122865
hgdp	rs398122865
ensembl	rs398122865
geneview	rs398122865
scholar	rs398122865
google	rs398122865
pharmgkb	rs398122865
gwascentral	rs398122865
openSNP	rs398122865
23andMe	rs398122865
SNPshot	rs398122865
SNPdbe	rs398122865
MSV3d	rs398122865
GWAS Ctlg	rs398122865

Max Magnitude

0

ClinVar
Risk	rs398122865(-;-)
Alt	rs398122865(-;-)
Reference	Rs398122865(CAG;CAG)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 5
Variation	info
Gene	SPTAN1
CLNDBN	Early infantile epileptic encephalopathy 5
Reversed	0
HGVS	NC_000009.11:g.131389693_131389695delAGC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029155.25,