rs118192215

Orientation

minus

Stabilized

minus

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

Make rs118192215(C;T)

Make rs118192215(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63438651

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192215
dbSNP (classic)	rs118192215
ClinGen	rs118192215
ebi	rs118192215
HLI	rs118192215
Exac	rs118192215
Gnomad	rs118192215
Varsome	rs118192215
LitVar	rs118192215
Map	rs118192215
PheGenI	rs118192215
Biobank	rs118192215
1000 genomes	rs118192215
hgdp	rs118192215
ensembl	rs118192215
geneview	rs118192215
scholar	rs118192215
google	rs118192215
pharmgkb	rs118192215
gwascentral	rs118192215
openSNP	rs118192215
23andMe	rs118192215
SNPshot	rs118192215
SNPdbe	rs118192215
MSV3d	rs118192215
GWAS Ctlg	rs118192215

Max Magnitude

0

ClinVar
Risk	rs118192215(T;T)
Alt	rs118192215(T;T)
Reference	Rs118192215(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 not provided
Reversed	1
HGVS	NC_000020.10:g.62070004G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021019.2, RCV000187879.2,

OMIM	121200
Desc
Variant
Related	also