rs118192230

Orientation

minus

Stabilized

minus

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

Make rs118192230(-;-)

Make rs118192230(-;CCCCTGCGAGTTTG)

Reference

GRCh38 38.1/142

Chromosome

20

Position

63414137

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192230
dbSNP (classic)	rs118192230
ClinGen	rs118192230
ebi	rs118192230
HLI	rs118192230
Exac	rs118192230
Gnomad	rs118192230
Varsome	rs118192230
LitVar	rs118192230
Map	rs118192230
PheGenI	rs118192230
Biobank	rs118192230
1000 genomes	rs118192230
hgdp	rs118192230
ensembl	rs118192230
geneview	rs118192230
scholar	rs118192230
google	rs118192230
pharmgkb	rs118192230
gwascentral	rs118192230
openSNP	rs118192230
23andMe	rs118192230
SNPshot	rs118192230
SNPdbe	rs118192230
MSV3d	rs118192230
GWAS Ctlg	rs118192230

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs118192230(CCCCTGCGAGTTTG;CCCCTGCGAGTTTG)
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.62045490_62045503delCAAACTCGCAGGGG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020973.1,