rs118192200

Orientation

minus

Stabilized

minus

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

Make rs118192200(A;A)

Make rs118192200(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444729

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192200
dbSNP (classic)	rs118192200
ClinGen	rs118192200
ebi	rs118192200
HLI	rs118192200
Exac	rs118192200
Gnomad	rs118192200
Varsome	rs118192200
LitVar	rs118192200
Map	rs118192200
PheGenI	rs118192200
Biobank	rs118192200
1000 genomes	rs118192200
hgdp	rs118192200
ensembl	rs118192200
geneview	rs118192200
scholar	rs118192200
google	rs118192200
pharmgkb	rs118192200
gwascentral	rs118192200
openSNP	rs118192200
23andMe	rs118192200
SNPshot	rs118192200
SNPdbe	rs118192200
MSV3d	rs118192200
GWAS Ctlg	rs118192200

Max Magnitude

0

OMIM	602235
Desc
Variant	0011
Related	also

ClinVar
Risk	rs118192200(A;A)
Alt	rs118192200(A;A)
Reference	Rs118192200(G;G)
Significance	Pathogenic
Disease	Seizures Early infantile epileptic encephalopathy 7 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Seizures, benign familial neonatal, 1, and/or myokymia Early infantile epileptic encephalopathy 7 not provided
Reversed	1
HGVS	NC_000020.10:g.62076082C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007815.2, RCV000021002.2, RCV000187863.1,