rs118192245

Orientation

minus

Stabilized

minus

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

Make rs118192245(-;-)

Make rs118192245(-;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63406666

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192245
dbSNP (classic)	rs118192245
ClinGen	rs118192245
ebi	rs118192245
HLI	rs118192245
Exac	rs118192245
Gnomad	rs118192245
Varsome	rs118192245
LitVar	rs118192245
Map	rs118192245
PheGenI	rs118192245
Biobank	rs118192245
1000 genomes	rs118192245
hgdp	rs118192245
ensembl	rs118192245
geneview	rs118192245
scholar	rs118192245
google	rs118192245
pharmgkb	rs118192245
gwascentral	rs118192245
openSNP	rs118192245
23andMe	rs118192245
SNPshot	rs118192245
SNPdbe	rs118192245
MSV3d	rs118192245
GWAS Ctlg	rs118192245

Max Magnitude

0

ClinVar
Risk	rs118192245(-;-)
Alt	rs118192245(-;-)
Reference	Rs118192245(G;G)
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.62038019delC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020989.2,

OMIM	121200
Desc
Variant
Related	also