rs118192202

Orientation

minus

Stabilized

minus

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

Make rs118192202(A;G)

Make rs118192202(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444714

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192202
dbSNP (classic)	rs118192202
ClinGen	rs118192202
ebi	rs118192202
HLI	rs118192202
Exac	rs118192202
Gnomad	rs118192202
Varsome	rs118192202
LitVar	rs118192202
Map	rs118192202
PheGenI	rs118192202
Biobank	rs118192202
1000 genomes	rs118192202
hgdp	rs118192202
ensembl	rs118192202
geneview	rs118192202
scholar	rs118192202
google	rs118192202
pharmgkb	rs118192202
gwascentral	rs118192202
openSNP	rs118192202
23andMe	rs118192202
SNPshot	rs118192202
SNPdbe	rs118192202
MSV3d	rs118192202
GWAS Ctlg	rs118192202

Max Magnitude

0

ClinVar
Risk	rs118192202(G;G) rs118192202(T;T)
Alt	rs118192202(G;G) rs118192202(T;T)
Reference	Rs118192202(A;A)
Significance	Pathogenic
Disease	not provided Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	not provided Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62076067T>A; NC_000020.10:g.62076067T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000485621.1, RCV000021004.2,

OMIM	121200
Desc
Variant
Related	also