rs118192208

Orientation

minus

Stabilized

minus

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

Make rs118192208(A;A)

Make rs118192208(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63442415

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192208
dbSNP (classic)	rs118192208
ClinGen	rs118192208
ebi	rs118192208
HLI	rs118192208
Exac	rs118192208
Gnomad	rs118192208
Varsome	rs118192208
LitVar	rs118192208
Map	rs118192208
PheGenI	rs118192208
Biobank	rs118192208
1000 genomes	rs118192208
hgdp	rs118192208
ensembl	rs118192208
geneview	rs118192208
scholar	rs118192208
google	rs118192208
pharmgkb	rs118192208
gwascentral	rs118192208
openSNP	rs118192208
23andMe	rs118192208
SNPshot	rs118192208
SNPdbe	rs118192208
MSV3d	rs118192208
GWAS Ctlg	rs118192208

Max Magnitude

0

ClinVar
Risk	rs118192208(A;A)
Alt	rs118192208(A;A)
Reference	Rs118192208(G;G)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62073768C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021012.2, RCV000187877.2,

OMIM	121200
Desc
Variant
Related	also