rs118192191

Orientation

minus

Stabilized

minus

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

Make rs118192191(-;-)

Make rs118192191(-;CCT)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63446818

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs118192191
dbSNP (classic)	rs118192191
ClinGen	rs118192191
ebi	rs118192191
HLI	rs118192191
Exac	rs118192191
Gnomad	rs118192191
Varsome	rs118192191
LitVar	rs118192191
Map	rs118192191
PheGenI	rs118192191
Biobank	rs118192191
1000 genomes	rs118192191
hgdp	rs118192191
ensembl	rs118192191
geneview	rs118192191
scholar	rs118192191
google	rs118192191
pharmgkb	rs118192191
gwascentral	rs118192191
openSNP	rs118192191
23andMe	rs118192191
SNPshot	rs118192191
SNPdbe	rs118192191
MSV3d	rs118192191
GWAS Ctlg	rs118192191

Max Magnitude

0

ClinVar
Risk	rs118192191(-;-)
Alt	rs118192191(-;-)
Reference	Rs118192191(CCT;CCT)
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.62078171_62078173delAGG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020992.2,

OMIM	121200
Desc
Variant
Related	also