rs121918773

Orientation

minus

Stabilized

minus

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

Make rs121918773(C;C)

Make rs121918773(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166054672

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918773
dbSNP (old)	rs121918773
ClinGen	rs121918773
ebi	rs121918773
HLI	rs121918773
Exac	rs121918773
Gnomad	rs121918773
Varsome	rs121918773
Map	rs121918773
PheGenI	rs121918773
Biobank	rs121918773
1000 genomes	rs121918773
hgdp	rs121918773
ensembl	rs121918773
gopubmed	rs121918773
geneview	rs121918773
scholar	rs121918773
google	rs121918773
pharmgkb	rs121918773
gwascentral	rs121918773
openSNP	rs121918773
23andMe	rs121918773
23andMe all	rs121918773
SNP Nexus
SNPshot	rs121918773
SNPdbe	rs121918773
MSV3d	rs121918773
GWAS Ctlg	rs121918773

Max Magnitude

0

ClinVar
Risk	rs121918773(C;C)
Alt	rs121918773(C;C)
Reference	Rs121918773(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.166911182A>G
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059548.2,