rs121918735

Orientation

minus

Stabilized

minus

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

Make rs121918735(A;A)

Make rs121918735(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166051906

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918735
dbSNP (classic)	rs121918735
ClinGen	rs121918735
ebi	rs121918735
HLI	rs121918735
Exac	rs121918735
Gnomad	rs121918735
Varsome	rs121918735
LitVar	rs121918735
Map	rs121918735
PheGenI	rs121918735
Biobank	rs121918735
1000 genomes	rs121918735
hgdp	rs121918735
ensembl	rs121918735
geneview	rs121918735
scholar	rs121918735
google	rs121918735
pharmgkb	rs121918735
gwascentral	rs121918735
openSNP	rs121918735
23andMe	rs121918735
SNPshot	rs121918735
SNPdbe	rs121918735
MSV3d	rs121918735
GWAS Ctlg	rs121918735

Max Magnitude

0

ClinVar
Risk	rs121918735(A;A) rs121918735(T;T)
Alt	rs121918735(A;A) rs121918735(T;T)
Reference	Rs121918735(C;C)
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.166908416G>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059553.2,