rs121917985

Orientation

minus

Stabilized

minus

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

Make rs121917985(A;A)

Make rs121917985(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

166051968

Gene

SCN1A

is a	snp
is	mentioned by
dbSNP	rs121917985
dbSNP (classic)	rs121917985
ClinGen	rs121917985
ebi	rs121917985
HLI	rs121917985
Exac	rs121917985
Gnomad	rs121917985
Varsome	rs121917985
LitVar	rs121917985
Map	rs121917985
PheGenI	rs121917985
Biobank	rs121917985
1000 genomes	rs121917985
hgdp	rs121917985
ensembl	rs121917985
geneview	rs121917985
scholar	rs121917985
google	rs121917985
pharmgkb	rs121917985
gwascentral	rs121917985
openSNP	rs121917985
23andMe	rs121917985
SNPshot	rs121917985
SNPdbe	rs121917985
MSV3d	rs121917985
GWAS Ctlg	rs121917985

Max Magnitude

0

ClinVar
Risk	rs121917985(A;A)
Alt	rs121917985(A;A)
Reference	Rs121917985(G;G)
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.166908478C>T
CLNSRC	UniProtKB (protein) UniProtKB (variants)
CLNACC	RCV000059456.2,