rs118192193

Orientation

minus

Stabilized

minus

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

Make rs118192193(A;G)

Make rs118192193(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63446778

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs118192193
dbSNP (classic)	rs118192193
ClinGen	rs118192193
ebi	rs118192193
HLI	rs118192193
Exac	rs118192193
Gnomad	rs118192193
Varsome	rs118192193
LitVar	rs118192193
Map	rs118192193
PheGenI	rs118192193
Biobank	rs118192193
1000 genomes	rs118192193
hgdp	rs118192193
ensembl	rs118192193
geneview	rs118192193
scholar	rs118192193
google	rs118192193
pharmgkb	rs118192193
gwascentral	rs118192193
openSNP	rs118192193
23andMe	rs118192193
SNPshot	rs118192193
SNPdbe	rs118192193
MSV3d	rs118192193
GWAS Ctlg	rs118192193

Max Magnitude

0

ClinVar
Risk	rs118192193(G;G)
Alt	rs118192193(G;G)
Reference	Rs118192193(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.62078131T>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020994.2,

OMIM	121200
Desc
Variant
Related	also