rs1057518668

Orientation

minus

Stabilized

minus

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

Make rs1057518668(-;-)

Make rs1057518668(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63406967

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057518668
dbSNP (classic)	rs1057518668
ClinGen	rs1057518668
ebi	rs1057518668
HLI	rs1057518668
Exac	rs1057518668
Gnomad	rs1057518668
Varsome	rs1057518668
LitVar	rs1057518668
Map	rs1057518668
PheGenI	rs1057518668
Biobank	rs1057518668
1000 genomes	rs1057518668
hgdp	rs1057518668
ensembl	rs1057518668
geneview	rs1057518668
scholar	rs1057518668
google	rs1057518668
pharmgkb	rs1057518668
gwascentral	rs1057518668
openSNP	rs1057518668
23andMe	rs1057518668
SNPshot	rs1057518668
SNPdbe	rs1057518668
MSV3d	rs1057518668
GWAS Ctlg	rs1057518668

Max Magnitude

0

ClinVar
Risk	rs1057518668(-;-)
Alt	rs1057518668(-;-)
Reference	Rs1057518668(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62038320delG
CLNSRC
CLNACC	RCV000415050.1,