rs118192233

Orientation

minus

Stabilized

minus

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

Make rs118192233(G;T)

Make rs118192233(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413582

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs118192233
dbSNP (classic)	rs118192233
ClinGen	rs118192233
ebi	rs118192233
HLI	rs118192233
Exac	rs118192233
Gnomad	rs118192233
Varsome	rs118192233
LitVar	rs118192233
Map	rs118192233
PheGenI	rs118192233
Biobank	rs118192233
1000 genomes	rs118192233
hgdp	rs118192233
ensembl	rs118192233
geneview	rs118192233
scholar	rs118192233
google	rs118192233
pharmgkb	rs118192233
gwascentral	rs118192233
openSNP	rs118192233
23andMe	rs118192233
SNPshot	rs118192233
SNPdbe	rs118192233
MSV3d	rs118192233
GWAS Ctlg	rs118192233

Max Magnitude

0

ClinVar
Risk	rs118192233(A;A) rs118192233(T;T)
Alt	rs118192233(A;A) rs118192233(T;T)
Reference	Rs118192233(G;G)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62044935C>A; NC_000020.10:g.62044935C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020974.3, RCV000187908.1,