rs118192223

Orientation

minus

Stabilized

minus

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

Make rs118192223(G;G)

Make rs118192223(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63428365

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192223
dbSNP (classic)	rs118192223
ClinGen	rs118192223
ebi	rs118192223
HLI	rs118192223
Exac	rs118192223
Gnomad	rs118192223
Varsome	rs118192223
LitVar	rs118192223
Map	rs118192223
PheGenI	rs118192223
Biobank	rs118192223
1000 genomes	rs118192223
hgdp	rs118192223
ensembl	rs118192223
geneview	rs118192223
scholar	rs118192223
google	rs118192223
pharmgkb	rs118192223
gwascentral	rs118192223
openSNP	rs118192223
23andMe	rs118192223
SNPshot	rs118192223
SNPdbe	rs118192223
MSV3d	rs118192223
GWAS Ctlg	rs118192223

Max Magnitude

0

ClinVar
Risk	rs118192223(G;G)
Alt	rs118192223(G;G)
Reference	Rs118192223(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.62059718A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020968.2,

OMIM	121200
Desc
Variant
Related	also