rs118192194

Orientation

minus

Stabilized

minus

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

Make rs118192194(C;T)

Make rs118192194(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63446769

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs118192194
dbSNP (classic)	rs118192194
ClinGen	rs118192194
ebi	rs118192194
HLI	rs118192194
Exac	rs118192194
Gnomad	rs118192194
Varsome	rs118192194
LitVar	rs118192194
Map	rs118192194
PheGenI	rs118192194
Biobank	rs118192194
1000 genomes	rs118192194
hgdp	rs118192194
ensembl	rs118192194
geneview	rs118192194
scholar	rs118192194
google	rs118192194
pharmgkb	rs118192194
gwascentral	rs118192194
openSNP	rs118192194
23andMe	rs118192194
SNPshot	rs118192194
SNPdbe	rs118192194
MSV3d	rs118192194
GWAS Ctlg	rs118192194

Max Magnitude

0

ClinVar
Risk	rs118192194(T;T)
Alt	rs118192194(T;T)
Reference	Rs118192194(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62078122G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020995.2, RCV000187851.2,

OMIM	121200
Desc
Variant
Related	also