rs118192222

Orientation

minus

Stabilized

minus

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

Make rs118192222(-;-)

Make rs118192222(-;AA)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63428391

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192222
dbSNP (classic)	rs118192222
ClinGen	rs118192222
ebi	rs118192222
HLI	rs118192222
Exac	rs118192222
Gnomad	rs118192222
Varsome	rs118192222
LitVar	rs118192222
Map	rs118192222
PheGenI	rs118192222
Biobank	rs118192222
1000 genomes	rs118192222
hgdp	rs118192222
ensembl	rs118192222
geneview	rs118192222
scholar	rs118192222
google	rs118192222
pharmgkb	rs118192222
gwascentral	rs118192222
openSNP	rs118192222
23andMe	rs118192222
SNPshot	rs118192222
SNPdbe	rs118192222
MSV3d	rs118192222
GWAS Ctlg	rs118192222

Max Magnitude

0

ClinVar
Risk	rs118192222(-;-)
Alt	rs118192222(-;-)
Reference	Rs118192222(AA;AA)
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.62059744_62059745delTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020967.2,

OMIM	121200
Desc
Variant
Related	also