rs118192212

Orientation

minus

Stabilized

minus

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

Make rs118192212(-;-)

Make rs118192212(-;TTC)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63439613

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs118192212
dbSNP (classic)	rs118192212
ClinGen	rs118192212
ebi	rs118192212
HLI	rs118192212
Exac	rs118192212
Gnomad	rs118192212
Varsome	rs118192212
LitVar	rs118192212
Map	rs118192212
PheGenI	rs118192212
Biobank	rs118192212
1000 genomes	rs118192212
hgdp	rs118192212
ensembl	rs118192212
geneview	rs118192212
scholar	rs118192212
google	rs118192212
pharmgkb	rs118192212
gwascentral	rs118192212
openSNP	rs118192212
23andMe	rs118192212
SNPshot	rs118192212
SNPdbe	rs118192212
MSV3d	rs118192212
GWAS Ctlg	rs118192212

Max Magnitude

0

ClinVar
Risk	rs118192212(-;-)
Alt	rs118192212(-;-)
Reference	Rs118192212(TTC;TTC)
Significance	Pathogenic
Disease	Benign Rolandic epilepsy Seizures Early infantile epileptic encephalopathy 7 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign Rolandic epilepsy Seizures Early infantile epileptic encephalopathy 7 not provided
Reversed	1
HGVS	NC_000020.10:g.62070963_62070965delGAA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000021016.2, RCV000194164.1, RCV000234792.1, RCV000414259.1,

OMIM	121200
Desc
Variant
Related	also