rs121917748

Orientation

plus

Stabilized

plus

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

Make rs121917748(C;T)

Make rs121917748(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165308751

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs121917748
dbSNP (classic)	rs121917748
ClinGen	rs121917748
ebi	rs121917748
HLI	rs121917748
Exac	rs121917748
Gnomad	rs121917748
Varsome	rs121917748
LitVar	rs121917748
Map	rs121917748
PheGenI	rs121917748
Biobank	rs121917748
1000 genomes	rs121917748
hgdp	rs121917748
ensembl	rs121917748
geneview	rs121917748
scholar	rs121917748
google	rs121917748
pharmgkb	rs121917748
gwascentral	rs121917748
openSNP	rs121917748
23andMe	rs121917748
SNPshot	rs121917748
SNPdbe	rs121917748
MSV3d	rs121917748
GWAS Ctlg	rs121917748

Max Magnitude

0

OMIM	182390
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917748(T;T)
Alt	rs121917748(T;T)
Reference	Rs121917748(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal-infantile seizures
Variation	info
Gene	SCN2A
CLNDBN	Benign familial neonatal-infantile seizures
Reversed	0
HGVS	NC_000002.11:g.166165261C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013735.25,