rs118192246

Orientation

minus

Stabilized

minus

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

Make rs118192246(-;GGGCC)

Make rs118192246(GGGCC;GGGCC)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63406658

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192246
dbSNP (classic)	rs118192246
ClinGen	rs118192246
ebi	rs118192246
HLI	rs118192246
Exac	rs118192246
Gnomad	rs118192246
Varsome	rs118192246
LitVar	rs118192246
Map	rs118192246
PheGenI	rs118192246
Biobank	rs118192246
1000 genomes	rs118192246
hgdp	rs118192246
ensembl	rs118192246
geneview	rs118192246
scholar	rs118192246
google	rs118192246
pharmgkb	rs118192246
gwascentral	rs118192246
openSNP	rs118192246
23andMe	rs118192246
SNPshot	rs118192246
SNPdbe	rs118192246
MSV3d	rs118192246
GWAS Ctlg	rs118192246

Merged from

Rs730882060

Max Magnitude

0

ClinVar
Risk	rs118192246(GGGCC;GGGCC)
Alt	rs118192246(GGGCC;GGGCC)
Reference	Rs118192246(-;-)
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.62038007_62038011dupGGCCC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020990.1,

OMIM	121200
Desc
Variant
Related	also