rs118192249

Orientation

minus

Stabilized

minus

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

Make rs118192249(C;C)

Make rs118192249(C;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132175461

Gene

KCNQ3

is a	snp
is	mentioned by
dbSNP	rs118192249
dbSNP (classic)	rs118192249
ClinGen	rs118192249
ebi	rs118192249
HLI	rs118192249
Exac	rs118192249
Gnomad	rs118192249
Varsome	rs118192249
LitVar	rs118192249
Map	rs118192249
PheGenI	rs118192249
Biobank	rs118192249
1000 genomes	rs118192249
hgdp	rs118192249
ensembl	rs118192249
geneview	rs118192249
scholar	rs118192249
google	rs118192249
pharmgkb	rs118192249
gwascentral	rs118192249
openSNP	rs118192249
23andMe	rs118192249
SNPshot	rs118192249
SNPdbe	rs118192249
MSV3d	rs118192249
GWAS Ctlg	rs118192249

Max Magnitude

0

ClinVar
Risk	rs118192249(C;C)
Alt	rs118192249(C;C)
Reference	Rs118192249(T;T)
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.133187708A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020601.2,