rs121917923

Orientation

minus

Stabilized

minus

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

Make rs121917923(A;A)

Make rs121917923(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166047725

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917923
dbSNP (classic)	rs121917923
ClinGen	rs121917923
ebi	rs121917923
HLI	rs121917923
Exac	rs121917923
Gnomad	rs121917923
Varsome	rs121917923
LitVar	rs121917923
Map	rs121917923
PheGenI	rs121917923
Biobank	rs121917923
1000 genomes	rs121917923
hgdp	rs121917923
ensembl	rs121917923
geneview	rs121917923
scholar	rs121917923
google	rs121917923
pharmgkb	rs121917923
gwascentral	rs121917923
openSNP	rs121917923
23andMe	rs121917923
SNPshot	rs121917923
SNPdbe	rs121917923
MSV3d	rs121917923
GWAS Ctlg	rs121917923

Max Magnitude

0

ClinVar
Risk	rs121917923(A;A) rs121917923(T;T)
Alt	rs121917923(A;A) rs121917923(T;T)
Reference	Rs121917923(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.166904235G>A; NC_000002.11:g.166904235G>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000180825.1, RCV000059372.1,