rs118192240

Orientation

minus

Stabilized

minus

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

Make rs118192240(G;G)

Make rs118192240(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63407353

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192240
dbSNP (classic)	rs118192240
ClinGen	rs118192240
ebi	rs118192240
HLI	rs118192240
Exac	rs118192240
Gnomad	rs118192240
Varsome	rs118192240
LitVar	rs118192240
Map	rs118192240
PheGenI	rs118192240
Biobank	rs118192240
1000 genomes	rs118192240
hgdp	rs118192240
ensembl	rs118192240
geneview	rs118192240
scholar	rs118192240
google	rs118192240
pharmgkb	rs118192240
gwascentral	rs118192240
openSNP	rs118192240
23andMe	rs118192240
SNPshot	rs118192240
SNPdbe	rs118192240
MSV3d	rs118192240
GWAS Ctlg	rs118192240

Max Magnitude

0

ClinVar
Risk	rs118192240(G;G)
Alt	rs118192240(G;G)
Reference	Rs118192240(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.62038706A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020979.2,

OMIM	121200
Desc
Variant
Related	also