rs118192224

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Possible miscall; otherwise, benign familial neonatal seizure related mutation

Make rs118192224(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63419632

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192224
dbSNP (classic)	rs118192224
ClinGen	rs118192224
ebi	rs118192224
HLI	rs118192224
Exac	rs118192224
Gnomad	rs118192224
Varsome	rs118192224
LitVar	rs118192224
Map	rs118192224
PheGenI	rs118192224
Biobank	rs118192224
1000 genomes	rs118192224
hgdp	rs118192224
ensembl	rs118192224
geneview	rs118192224
scholar	rs118192224
google	rs118192224
pharmgkb	rs118192224
gwascentral	rs118192224
openSNP	rs118192224
23andMe	rs118192224
SNPshot	rs118192224
SNPdbe	rs118192224
MSV3d	rs118192224
GWAS Ctlg	rs118192224

Max Magnitude

3

ClinVar
Risk	rs118192224(T;T)
Alt	rs118192224(T;T)
Reference	Rs118192224(C;C)
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.62050985G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020969.2,

OMIM	121200
Desc
Variant
Related	also