rs121917754

Orientation

plus

Stabilized

plus

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

Make rs121917754(A;A)

Make rs121917754(A;C)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165354279

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs121917754
dbSNP (classic)	rs121917754
ClinGen	rs121917754
ebi	rs121917754
HLI	rs121917754
Exac	rs121917754
Gnomad	rs121917754
Varsome	rs121917754
LitVar	rs121917754
Map	rs121917754
PheGenI	rs121917754
Biobank	rs121917754
1000 genomes	rs121917754
hgdp	rs121917754
ensembl	rs121917754
geneview	rs121917754
scholar	rs121917754
google	rs121917754
pharmgkb	rs121917754
gwascentral	rs121917754
openSNP	rs121917754
23andMe	rs121917754
SNPshot	rs121917754
SNPdbe	rs121917754
MSV3d	rs121917754
GWAS Ctlg	rs121917754

Max Magnitude

0

OMIM	182390
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121917754(A;A)
Alt	rs121917754(A;A)
Reference	Rs121917754(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.166210789C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013741.24,