rs118192236

Orientation

minus

Stabilized

minus

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

Make rs118192236(C;T)

Make rs118192236(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63413472

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs118192236
dbSNP (classic)	rs118192236
ClinGen	rs118192236
ebi	rs118192236
HLI	rs118192236
Exac	rs118192236
Gnomad	rs118192236
Varsome	rs118192236
LitVar	rs118192236
Map	rs118192236
PheGenI	rs118192236
Biobank	rs118192236
1000 genomes	rs118192236
hgdp	rs118192236
ensembl	rs118192236
geneview	rs118192236
scholar	rs118192236
google	rs118192236
pharmgkb	rs118192236
gwascentral	rs118192236
openSNP	rs118192236
23andMe	rs118192236
SNPshot	rs118192236
SNPdbe	rs118192236
MSV3d	rs118192236
GWAS Ctlg	rs118192236

Max Magnitude

0

ClinVar
Risk	rs118192236(G;G) rs118192236(T;T)
Alt	rs118192236(G;G) rs118192236(T;T)
Reference	Rs118192236(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62044825G>A; NC_000020.10:g.62044825G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020976.2, RCV000187920.1, RCV000255557.1, RCV000408663.1,

OMIM	121200
Desc
Variant
Related	also