rs118192217

Orientation

minus

Stabilized

minus

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

Make rs118192217(G;G)

Make rs118192217(G;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63438632

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192217
dbSNP (classic)	rs118192217
ClinGen	rs118192217
ebi	rs118192217
HLI	rs118192217
Exac	rs118192217
Gnomad	rs118192217
Varsome	rs118192217
LitVar	rs118192217
Map	rs118192217
PheGenI	rs118192217
Biobank	rs118192217
1000 genomes	rs118192217
hgdp	rs118192217
ensembl	rs118192217
geneview	rs118192217
scholar	rs118192217
google	rs118192217
pharmgkb	rs118192217
gwascentral	rs118192217
openSNP	rs118192217
23andMe	rs118192217
SNPshot	rs118192217
SNPdbe	rs118192217
MSV3d	rs118192217
GWAS Ctlg	rs118192217

Max Magnitude

0

ClinVar
Risk	rs118192217(G;G)
Alt	rs118192217(G;G)
Reference	Rs118192217(T;T)
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.62069985A>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020963.2,

OMIM	121200
Desc
Variant
Related	also