rs118192252

Orientation

minus

Stabilized

minus

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

Make rs118192252(A;G)

Make rs118192252(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132141191

Gene

KCNQ3

is a	snp
is	mentioned by
dbSNP	rs118192252
dbSNP (classic)	rs118192252
ClinGen	rs118192252
ebi	rs118192252
HLI	rs118192252
Exac	rs118192252
Gnomad	rs118192252
Varsome	rs118192252
LitVar	rs118192252
Map	rs118192252
PheGenI	rs118192252
Biobank	rs118192252
1000 genomes	rs118192252
hgdp	rs118192252
ensembl	rs118192252
geneview	rs118192252
scholar	rs118192252
google	rs118192252
pharmgkb	rs118192252
gwascentral	rs118192252
openSNP	rs118192252
23andMe	rs118192252
SNPshot	rs118192252
SNPdbe	rs118192252
MSV3d	rs118192252
GWAS Ctlg	rs118192252

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs118192252(G;G)
Alt	rs118192252(G;G)
Reference	Rs118192252(A;A)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 2 not specified
Variation	info
Gene	KCNQ3
CLNDBN	Benign familial neonatal seizures 2 not specified
Reversed	1
HGVS	NC_000008.10:g.133153438T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020596.1, RCV000188009.2,