rs387906683

Orientation

plus

Stabilized

plus

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

Make rs387906683(C;T)

Make rs387906683(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

165297053

Gene

SCN2A

is a	snp
is	mentioned by
dbSNP	rs387906683
dbSNP (classic)	rs387906683
ClinGen	rs387906683
ebi	rs387906683
HLI	rs387906683
Exac	rs387906683
Gnomad	rs387906683
Varsome	rs387906683
LitVar	rs387906683
Map	rs387906683
PheGenI	rs387906683
Biobank	rs387906683
1000 genomes	rs387906683
hgdp	rs387906683
ensembl	rs387906683
geneview	rs387906683
scholar	rs387906683
google	rs387906683
pharmgkb	rs387906683
gwascentral	rs387906683
openSNP	rs387906683
23andMe	rs387906683
SNPshot	rs387906683
SNPdbe	rs387906683
MSV3d	rs387906683
GWAS Ctlg	rs387906683

Max Magnitude

0

ClinVar
Risk	rs387906683(T;T)
Alt	rs387906683(T;T)
Reference	Rs387906683(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 11
Variation	info
Gene	SCN2A
CLNDBN	Early infantile epileptic encephalopathy 11
Reversed	0
HGVS	NC_000002.11:g.166153563C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022766.23,