rs118192242

Orientation

minus

Stabilized

minus

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

Make rs118192242(-;-)

Make rs118192242(-;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63407307

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192242
dbSNP (classic)	rs118192242
ClinGen	rs118192242
ebi	rs118192242
HLI	rs118192242
Exac	rs118192242
Gnomad	rs118192242
Varsome	rs118192242
LitVar	rs118192242
Map	rs118192242
PheGenI	rs118192242
Biobank	rs118192242
1000 genomes	rs118192242
hgdp	rs118192242
ensembl	rs118192242
geneview	rs118192242
scholar	rs118192242
google	rs118192242
pharmgkb	rs118192242
gwascentral	rs118192242
openSNP	rs118192242
23andMe	rs118192242
SNPshot	rs118192242
SNPdbe	rs118192242
MSV3d	rs118192242
GWAS Ctlg	rs118192242

Max Magnitude

0

ClinVar
Risk	rs118192242(-;-)
Alt	rs118192242(-;-)
Reference	Rs118192242(G;G)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62038660delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020981.2,

OMIM	121200
Desc
Variant
Related	also