rs121917938

Orientation

minus

Stabilized

minus

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

Make rs121917938(C;C)

Make rs121917938(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166051845

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917938
dbSNP (classic)	rs121917938
ClinGen	rs121917938
ebi	rs121917938
HLI	rs121917938
Exac	rs121917938
Gnomad	rs121917938
Varsome	rs121917938
LitVar	rs121917938
Map	rs121917938
PheGenI	rs121917938
Biobank	rs121917938
1000 genomes	rs121917938
hgdp	rs121917938
ensembl	rs121917938
geneview	rs121917938
scholar	rs121917938
google	rs121917938
pharmgkb	rs121917938
gwascentral	rs121917938
openSNP	rs121917938
23andMe	rs121917938
SNPshot	rs121917938
SNPdbe	rs121917938
MSV3d	rs121917938
GWAS Ctlg	rs121917938

Max Magnitude

0

ClinVar
Risk	rs121917938(C;C)
Alt	rs121917938(C;C)
Reference	Rs121917938(T;T)
Significance	Pathogenic
Disease	Severe myoclonic epilepsy in infancy
Variation	info
Gene	SCN1A
CLNDBN	Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166908355A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059459.2,