rs118192192

Orientation

minus

Stabilized

minus

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

Make rs118192192(-;-)

Make rs118192192(-;AAG)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63446786

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs118192192
dbSNP (classic)	rs118192192
ClinGen	rs118192192
ebi	rs118192192
HLI	rs118192192
Exac	rs118192192
Gnomad	rs118192192
Varsome	rs118192192
LitVar	rs118192192
Map	rs118192192
PheGenI	rs118192192
Biobank	rs118192192
1000 genomes	rs118192192
hgdp	rs118192192
ensembl	rs118192192
geneview	rs118192192
scholar	rs118192192
google	rs118192192
pharmgkb	rs118192192
gwascentral	rs118192192
openSNP	rs118192192
23andMe	rs118192192
SNPshot	rs118192192
SNPdbe	rs118192192
MSV3d	rs118192192
GWAS Ctlg	rs118192192

Max Magnitude

0

ClinVar
Risk	rs118192192(-;-)
Alt	rs118192192(-;-)
Reference	Rs118192192(AAG;AAG)
Significance	Pathogenic
Disease	Benign familial neonatal seizures
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures
Reversed	1
HGVS	NC_000020.10:g.62078139_62078141delCTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020993.2,

OMIM	121200
Desc
Variant
Related	also