rs118192187

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(GGTG;GGTG)	0	common in complete genomics
(GTGG;GTGG)	0	common in clinvar
(I;I)	0	common genotype
(TGGG;TGGG)	0	common in clinvar

Make rs118192187(-;-)

Make rs118192187(-;GGTG)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63472398

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192187
dbSNP (classic)	rs118192187
ClinGen	rs118192187
ebi	rs118192187
HLI	rs118192187
Exac	rs118192187
Gnomad	rs118192187
Varsome	rs118192187
LitVar	rs118192187
Map	rs118192187
PheGenI	rs118192187
Biobank	rs118192187
1000 genomes	rs118192187
hgdp	rs118192187
ensembl	rs118192187
geneview	rs118192187
scholar	rs118192187
google	rs118192187
pharmgkb	rs118192187
gwascentral	rs118192187
openSNP	rs118192187
23andMe	rs118192187
SNPshot	rs118192187
SNPdbe	rs118192187
MSV3d	rs118192187
GWAS Ctlg	rs118192187

Max Magnitude

0

ClinVar
Risk	rs118192187(-;-)
Alt	rs118192187(-;-)
Reference	Rs118192187(TGGG;TGGG)
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.62103751_62103754delCACC
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021006.2,

OMIM	121200
Desc
Variant
Related	also