rs118192207

Orientation

minus

Stabilized

minus

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

Make rs118192207(A;G)

Make rs118192207(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63442449

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192207
dbSNP (classic)	rs118192207
ClinGen	rs118192207
ebi	rs118192207
HLI	rs118192207
Exac	rs118192207
Gnomad	rs118192207
Varsome	rs118192207
LitVar	rs118192207
Map	rs118192207
PheGenI	rs118192207
Biobank	rs118192207
1000 genomes	rs118192207
hgdp	rs118192207
ensembl	rs118192207
geneview	rs118192207
scholar	rs118192207
google	rs118192207
pharmgkb	rs118192207
gwascentral	rs118192207
openSNP	rs118192207
23andMe	rs118192207
SNPshot	rs118192207
SNPdbe	rs118192207
MSV3d	rs118192207
GWAS Ctlg	rs118192207

Max Magnitude

0

ClinVar
Risk	rs118192207(G;G)
Alt	rs118192207(G;G)
Reference	Rs118192207(A;A)
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.62073802T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021011.2,

OMIM	121200
Desc
Variant
Related	also