rs118192203

Orientation

minus

Stabilized

minus

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

Make rs118192203(C;T)

Make rs118192203(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444712

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192203
dbSNP (classic)	rs118192203
ClinGen	rs118192203
ebi	rs118192203
HLI	rs118192203
Exac	rs118192203
Gnomad	rs118192203
Varsome	rs118192203
LitVar	rs118192203
Map	rs118192203
PheGenI	rs118192203
Biobank	rs118192203
1000 genomes	rs118192203
hgdp	rs118192203
ensembl	rs118192203
geneview	rs118192203
scholar	rs118192203
google	rs118192203
pharmgkb	rs118192203
gwascentral	rs118192203
openSNP	rs118192203
23andMe	rs118192203
SNPshot	rs118192203
SNPdbe	rs118192203
MSV3d	rs118192203
GWAS Ctlg	rs118192203

Max Magnitude

0

ClinVar
Risk	rs118192203(T;T)
Alt	rs118192203(T;T)
Reference	Rs118192203(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 not provided Early infantile epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 Early infantile epileptic encephalopathy 7 not provided Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62076065G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021005.3, RCV000178400.2, RCV000187866.2, RCV000234346.1,

OMIM	121200
Desc
Variant
Related	also