rs118192250

Orientation

minus

Stabilized

minus

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

Make rs118192250(G;T)

Make rs118192250(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

132175457

Gene

KCNQ3

is a	snp
is	mentioned by
dbSNP	rs118192250
dbSNP (classic)	rs118192250
ClinGen	rs118192250
ebi	rs118192250
HLI	rs118192250
Exac	rs118192250
Gnomad	rs118192250
Varsome	rs118192250
LitVar	rs118192250
Map	rs118192250
PheGenI	rs118192250
Biobank	rs118192250
1000 genomes	rs118192250
hgdp	rs118192250
ensembl	rs118192250
geneview	rs118192250
scholar	rs118192250
google	rs118192250
pharmgkb	rs118192250
gwascentral	rs118192250
openSNP	rs118192250
23andMe	rs118192250
SNPshot	rs118192250
SNPdbe	rs118192250
MSV3d	rs118192250
GWAS Ctlg	rs118192250

Max Magnitude

0

OMIM	602232
Desc
Variant	0001
Related	also

ClinVar
Risk	rs118192250(T;T)
Alt	rs118192250(T;T)
Reference	Rs118192250(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.133187704C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007816.3,