rs118192226

Orientation

minus

Stabilized

minus

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

Make rs118192226(C;T)

Make rs118192226(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63415086

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192226
dbSNP (classic)	rs118192226
ClinGen	rs118192226
ebi	rs118192226
HLI	rs118192226
Exac	rs118192226
Gnomad	rs118192226
Varsome	rs118192226
LitVar	rs118192226
Map	rs118192226
PheGenI	rs118192226
Biobank	rs118192226
1000 genomes	rs118192226
hgdp	rs118192226
ensembl	rs118192226
geneview	rs118192226
scholar	rs118192226
google	rs118192226
pharmgkb	rs118192226
gwascentral	rs118192226
openSNP	rs118192226
23andMe	rs118192226
SNPshot	rs118192226
SNPdbe	rs118192226
MSV3d	rs118192226
GWAS Ctlg	rs118192226

Max Magnitude

0

ClinVar
Risk	rs118192226(T;T)
Alt	rs118192226(T;T)
Reference	Rs118192226(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided Early infantile epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62046439G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020970.3, RCV000187902.1, RCV000463586.1,

OMIM	121200
Desc
Variant
Related	also