rs121918622

Orientation

minus

Stabilized

minus

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

Make rs121918622(A;A)

Make rs121918622(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165992332

Gene	LOC102724058, SCN1A

is a	snp
is	mentioned by
dbSNP	rs121918622
dbSNP (classic)	rs121918622
ClinGen	rs121918622
ebi	rs121918622
HLI	rs121918622
Exac	rs121918622
Gnomad	rs121918622
Varsome	rs121918622
LitVar	rs121918622
Map	rs121918622
PheGenI	rs121918622
Biobank	rs121918622
1000 genomes	rs121918622
hgdp	rs121918622
ensembl	rs121918622
geneview	rs121918622
scholar	rs121918622
google	rs121918622
pharmgkb	rs121918622
gwascentral	rs121918622
openSNP	rs121918622
23andMe	rs121918622
SNPshot	rs121918622
SNPdbe	rs121918622
MSV3d	rs121918622
GWAS Ctlg	rs121918622

Max Magnitude

0

OMIM	182389
Desc
Variant	0001
Related	also

OMIM	607208
Desc
Variant
Related	also

ClinVar
Risk	rs121918622(A;A) rs121918622(T;T)
Alt	rs121918622(A;A) rs121918622(T;T)
Reference	Rs121918622(G;G)
Significance	Pathogenic
Disease	not provided Generalized epilepsy with febrile seizures plus Severe myoclonic epilepsy in infancy
Variation	info
Gene	LOC102724058 SCN1A
CLNDBN	not provided Generalized epilepsy with febrile seizures plus, type 2 Severe myoclonic epilepsy in infancy
Reversed	1
HGVS	NC_000002.11:g.166848842C>A; NC_000002.11:g.166848842C>T
CLNSRC	OMIM Allelic Variant UniProtKB (variants)
CLNACC	RCV000188988.1, RCV000013742.24, RCV000059521.1, RCV000484119.1,

[PMID 20522430] Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.