rs118192234

Orientation

minus

Stabilized

minus

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

Make rs118192234(A;A)

Make rs118192234(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413555

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs118192234
dbSNP (classic)	rs118192234
ClinGen	rs118192234
ebi	rs118192234
HLI	rs118192234
Exac	rs118192234
Gnomad	rs118192234
Varsome	rs118192234
LitVar	rs118192234
Map	rs118192234
PheGenI	rs118192234
Biobank	rs118192234
1000 genomes	rs118192234
hgdp	rs118192234
ensembl	rs118192234
geneview	rs118192234
scholar	rs118192234
google	rs118192234
pharmgkb	rs118192234
gwascentral	rs118192234
openSNP	rs118192234
23andMe	rs118192234
SNPshot	rs118192234
SNPdbe	rs118192234
MSV3d	rs118192234
GWAS Ctlg	rs118192234

Max Magnitude

0

ClinVar
Risk	rs118192234(A;A) rs118192234(T;T)
Alt	rs118192234(A;A) rs118192234(T;T)
Reference	Rs118192234(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 not provided Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 not provided Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62044908C>A; NC_000020.10:g.62044908C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000408711.1, RCV000423974.1, RCV000020975.2, RCV000187913.2,

OMIM	121200
Desc
Variant
Related	also