rs118192243

Orientation

minus

Stabilized

minus

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

Make rs118192243(-;-)

Make rs118192243(-;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63407248

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192243
dbSNP (classic)	rs118192243
ClinGen	rs118192243
ebi	rs118192243
HLI	rs118192243
Exac	rs118192243
Gnomad	rs118192243
Varsome	rs118192243
LitVar	rs118192243
Map	rs118192243
PheGenI	rs118192243
Biobank	rs118192243
1000 genomes	rs118192243
hgdp	rs118192243
ensembl	rs118192243
geneview	rs118192243
scholar	rs118192243
google	rs118192243
pharmgkb	rs118192243
gwascentral	rs118192243
openSNP	rs118192243
23andMe	rs118192243
SNPshot	rs118192243
SNPdbe	rs118192243
MSV3d	rs118192243
GWAS Ctlg	rs118192243

Max Magnitude

0

ClinVar
Risk	rs118192243(-;-)
Alt	rs118192243(-;-)
Reference	Rs118192243(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.62038601delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020983.2,

OMIM	121200
Desc
Variant
Related	also