rs672601319

Orientation

plus

Stabilized

plus

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

Make rs672601319(A;G)

Make rs672601319(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

51688810

Gene

SCN8A

is a	snp
is	mentioned by
dbSNP	rs672601319
dbSNP (classic)	rs672601319
ClinGen	rs672601319
ebi	rs672601319
HLI	rs672601319
Exac	rs672601319
Gnomad	rs672601319
Varsome	rs672601319
LitVar	rs672601319
Map	rs672601319
PheGenI	rs672601319
Biobank	rs672601319
1000 genomes	rs672601319
hgdp	rs672601319
ensembl	rs672601319
geneview	rs672601319
scholar	rs672601319
google	rs672601319
pharmgkb	rs672601319
gwascentral	rs672601319
openSNP	rs672601319
23andMe	rs672601319
SNPshot	rs672601319
SNPdbe	rs672601319
MSV3d	rs672601319
GWAS Ctlg	rs672601319

Max Magnitude

0

ClinVar
Risk	rs672601319(G;G)
Alt	rs672601319(G;G)
Reference	Rs672601319(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 13
Variation	info
Gene	SCN8A
CLNDBN	Early infantile epileptic encephalopathy 13
Reversed	0
HGVS	NC_000012.11:g.52082594A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000149436.6,