rs117067974

Orientation

plus

Stabilized

plus

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

Make rs117067974(C;G)

Make rs117067974(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63414174

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs117067974
dbSNP (classic)	rs117067974
ClinGen	rs117067974
ebi	rs117067974
HLI	rs117067974
Exac	rs117067974
Gnomad	rs117067974
Varsome	rs117067974
LitVar	rs117067974
Map	rs117067974
PheGenI	rs117067974
Biobank	rs117067974
1000 genomes	rs117067974
hgdp	rs117067974
ensembl	rs117067974
geneview	rs117067974
scholar	rs117067974
google	rs117067974
pharmgkb	rs117067974
gwascentral	rs117067974
openSNP	rs117067974
23andMe	rs117067974
SNPshot	rs117067974
SNPdbe	rs117067974
MSV3d	rs117067974
GWAS Ctlg	rs117067974

GMAF

0.0101

Max Magnitude

0

ClinVar
Risk	rs117067974(A;A) rs117067974(G;G)
Alt	rs117067974(A;A) rs117067974(G;G)
Reference	Rs117067974(C;C)
Significance	Other
Disease	Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders Early infantile epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not specified KCNQ2-Related Disorders Early infantile epileptic encephalopathy
Reversed	0
HGVS	NC_000020.10:g.62045527C>G
CLNSRC	ClinVar GeneDx GeneReviews University of Chicago
CLNACC	RCV000020972.2, RCV000117341.3, RCV000363201.1, RCV000465560.1,

OMIM	121200
Desc
Variant
Related	also