rs118192247

Orientation

minus

Stabilized

minus

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

Make rs118192247(A;A)

Make rs118192247(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132175491

Gene

KCNQ3

is a	snp
is	mentioned by
dbSNP	rs118192247
dbSNP (classic)	rs118192247
ClinGen	rs118192247
ebi	rs118192247
HLI	rs118192247
Exac	rs118192247
Gnomad	rs118192247
Varsome	rs118192247
LitVar	rs118192247
Map	rs118192247
PheGenI	rs118192247
Biobank	rs118192247
1000 genomes	rs118192247
hgdp	rs118192247
ensembl	rs118192247
geneview	rs118192247
scholar	rs118192247
google	rs118192247
pharmgkb	rs118192247
gwascentral	rs118192247
openSNP	rs118192247
23andMe	rs118192247
SNPshot	rs118192247
SNPdbe	rs118192247
MSV3d	rs118192247
GWAS Ctlg	rs118192247

Max Magnitude

0

ClinVar
Risk	rs118192247(A;A)
Alt	rs118192247(A;A)
Reference	Rs118192247(G;G)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 2
Variation	info
Gene	KCNQ3
CLNDBN	Benign familial neonatal seizures 2
Reversed	1
HGVS	NC_000008.10:g.133187738C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020599.1,