rs118192241

Orientation

minus

Stabilized

minus

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

Make rs118192241(-;-)

Make rs118192241(-;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63407333

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192241
dbSNP (classic)	rs118192241
ClinGen	rs118192241
ebi	rs118192241
HLI	rs118192241
Exac	rs118192241
Gnomad	rs118192241
Varsome	rs118192241
LitVar	rs118192241
Map	rs118192241
PheGenI	rs118192241
Biobank	rs118192241
1000 genomes	rs118192241
hgdp	rs118192241
ensembl	rs118192241
geneview	rs118192241
scholar	rs118192241
google	rs118192241
pharmgkb	rs118192241
gwascentral	rs118192241
openSNP	rs118192241
23andMe	rs118192241
SNPshot	rs118192241
SNPdbe	rs118192241
MSV3d	rs118192241
GWAS Ctlg	rs118192241

Max Magnitude

0

ClinVar
Risk	rs118192241(-;-)
Alt	rs118192241(-;-)
Reference	Rs118192241(T;T)
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.62038686delA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020980.2,

OMIM	121200
Desc
Variant
Related	also