rs118192199

Orientation

minus

Stabilized

minus

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

Make rs118192199(C;T)

Make rs118192199(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444762

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192199
dbSNP (classic)	rs118192199
ClinGen	rs118192199
ebi	rs118192199
HLI	rs118192199
Exac	rs118192199
Gnomad	rs118192199
Varsome	rs118192199
LitVar	rs118192199
Map	rs118192199
PheGenI	rs118192199
Biobank	rs118192199
1000 genomes	rs118192199
hgdp	rs118192199
ensembl	rs118192199
geneview	rs118192199
scholar	rs118192199
google	rs118192199
pharmgkb	rs118192199
gwascentral	rs118192199
openSNP	rs118192199
23andMe	rs118192199
SNPshot	rs118192199
SNPdbe	rs118192199
MSV3d	rs118192199
GWAS Ctlg	rs118192199

Max Magnitude

0

ClinVar
Risk	rs118192199(T;T)
Alt	rs118192199(T;T)
Reference	Rs118192199(C;C)
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.62076115G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021000.2,

OMIM	121200
Desc
Variant
Related	also