rs77358650

Orientation

plus

Stabilized

plus

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

Make rs77358650(A;A)

Make rs77358650(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

128580928

Gene

SPTAN1

is a	snp
is	mentioned by
dbSNP	rs77358650
dbSNP (classic)	rs77358650
ClinGen	rs77358650
ebi	rs77358650
HLI	rs77358650
Exac	rs77358650
Gnomad	rs77358650
Varsome	rs77358650
LitVar	rs77358650
Map	rs77358650
PheGenI	rs77358650
Biobank	rs77358650
1000 genomes	rs77358650
hgdp	rs77358650
ensembl	rs77358650
geneview	rs77358650
scholar	rs77358650
google	rs77358650
pharmgkb	rs77358650
gwascentral	rs77358650
openSNP	rs77358650
23andMe	rs77358650
SNPshot	rs77358650
SNPdbe	rs77358650
MSV3d	rs77358650
GWAS Ctlg	rs77358650

Max Magnitude

0

ClinVar
Risk	rs77358650(A;A)
Alt	rs77358650(A;A)
Reference	Rs77358650(G;G)
Significance	Probable-Pathogenic
Disease	not specified Early infantile epileptic encephalopathy 5 Early Infantile Epileptic Encephalopathy Abnormality of brain morphology Early infantile epileptic encephalopathy
Variation	info
Gene	SPTAN1
CLNDBN	not specified Early infantile epileptic encephalopathy 5 Early Infantile Epileptic Encephalopathy, Autosomal Dominant Abnormality of brain morphology Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000009.11:g.131343207G>A
CLNSRC
CLNACC	RCV000128230.3, RCV000147605.1, RCV000274173.1, RCV000454129.1, RCV000458268.1,