rs587784440

Orientation

plus

Stabilized

plus

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

Make rs587784440(-;GGACCAGCT)

Make rs587784440(GGACCAGCT;GGACCAGCT)

Reference

GRCh38.p2 38.2/144

Chromosome

9

Position

128632278

Gene

SPTAN1

is a	snp
is	mentioned by
dbSNP	rs587784440
dbSNP (classic)	rs587784440
ClinGen	rs587784440
ebi	rs587784440
HLI	rs587784440
Exac	rs587784440
Gnomad	rs587784440
Varsome	rs587784440
LitVar	rs587784440
Map	rs587784440
PheGenI	rs587784440
Biobank	rs587784440
1000 genomes	rs587784440
hgdp	rs587784440
ensembl	rs587784440
geneview	rs587784440
scholar	rs587784440
google	rs587784440
pharmgkb	rs587784440
gwascentral	rs587784440
openSNP	rs587784440
23andMe	rs587784440
SNPshot	rs587784440
SNPdbe	rs587784440
MSV3d	rs587784440
GWAS Ctlg	rs587784440

Merged from

Rs587784441

Max Magnitude

0

ClinVar
Risk	rs587784440(ACCAGCTGG;ACCAGCTGG) rs587784440(GGACCAGCT;GGACCAGCT)
Alt	rs587784440(ACCAGCTGG;ACCAGCTGG) rs587784440(GGACCAGCT;GGACCAGCT)
Reference	Rs587784440(-;-)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 5 not provided
Variation	info
Gene	SPTAN1
CLNDBN	Early infantile epileptic encephalopathy 5 not provided
Reversed	0
HGVS	NC_000009.11:g.131394551_131394559dupACCAGCTGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000147656.5, RCV000189556.1,