rs118192189

Orientation

minus

Stabilized

minus

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

Make rs118192189(-;-)

Make rs118192189(-;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63472232

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192189
dbSNP (classic)	rs118192189
ClinGen	rs118192189
ebi	rs118192189
HLI	rs118192189
Exac	rs118192189
Gnomad	rs118192189
Varsome	rs118192189
LitVar	rs118192189
Map	rs118192189
PheGenI	rs118192189
Biobank	rs118192189
1000 genomes	rs118192189
hgdp	rs118192189
ensembl	rs118192189
geneview	rs118192189
scholar	rs118192189
google	rs118192189
pharmgkb	rs118192189
gwascentral	rs118192189
openSNP	rs118192189
23andMe	rs118192189
SNPshot	rs118192189
SNPdbe	rs118192189
MSV3d	rs118192189
GWAS Ctlg	rs118192189

Max Magnitude

0

ClinVar
Risk	rs118192189(-;-)
Alt	rs118192189(-;-)
Reference	Rs118192189(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.62103585delG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020986.2,

OMIM	121200
Desc
Variant
Related	also