rs121917752

Orientation

plus

Stabilized

plus

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

Make rs121917752(A;A)

Make rs121917752(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165309414

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs121917752
dbSNP (classic)	rs121917752
ClinGen	rs121917752
ebi	rs121917752
HLI	rs121917752
Exac	rs121917752
Gnomad	rs121917752
Varsome	rs121917752
LitVar	rs121917752
Map	rs121917752
PheGenI	rs121917752
Biobank	rs121917752
1000 genomes	rs121917752
hgdp	rs121917752
ensembl	rs121917752
geneview	rs121917752
scholar	rs121917752
google	rs121917752
pharmgkb	rs121917752
gwascentral	rs121917752
openSNP	rs121917752
23andMe	rs121917752
SNPshot	rs121917752
SNPdbe	rs121917752
MSV3d	rs121917752
GWAS Ctlg	rs121917752

Max Magnitude

0

OMIM	182390
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121917752(A;A)
Alt	rs121917752(A;A)
Reference	Rs121917752(G;G)
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.166165924G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013739.25,