rs118192239

Orientation

minus

Stabilized

minus

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

Make rs118192239(A;A)

Make rs118192239(A;C)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63408542

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192239
dbSNP (classic)	rs118192239
ClinGen	rs118192239
ebi	rs118192239
HLI	rs118192239
Exac	rs118192239
Gnomad	rs118192239
Varsome	rs118192239
LitVar	rs118192239
Map	rs118192239
PheGenI	rs118192239
Biobank	rs118192239
1000 genomes	rs118192239
hgdp	rs118192239
ensembl	rs118192239
geneview	rs118192239
scholar	rs118192239
google	rs118192239
pharmgkb	rs118192239
gwascentral	rs118192239
openSNP	rs118192239
23andMe	rs118192239
SNPshot	rs118192239
SNPdbe	rs118192239
MSV3d	rs118192239
GWAS Ctlg	rs118192239

Max Magnitude

0

ClinVar
Risk	rs118192239(A;A) rs118192239(T;T)
Alt	rs118192239(A;A) rs118192239(T;T)
Reference	Rs118192239(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62039895G>A; NC_000020.10:g.62039895G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000198558.2, RCV000021025.2,