rs1057518662

Orientation

minus

Stabilized

minus

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

Make rs1057518662(-;-)

Make rs1057518662(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63406838

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057518662
dbSNP (classic)	rs1057518662
ClinGen	rs1057518662
ebi	rs1057518662
HLI	rs1057518662
Exac	rs1057518662
Gnomad	rs1057518662
Varsome	rs1057518662
LitVar	rs1057518662
Map	rs1057518662
PheGenI	rs1057518662
Biobank	rs1057518662
1000 genomes	rs1057518662
hgdp	rs1057518662
ensembl	rs1057518662
geneview	rs1057518662
scholar	rs1057518662
google	rs1057518662
pharmgkb	rs1057518662
gwascentral	rs1057518662
openSNP	rs1057518662
23andMe	rs1057518662
SNPshot	rs1057518662
SNPdbe	rs1057518662
MSV3d	rs1057518662
GWAS Ctlg	rs1057518662

Max Magnitude

0

ClinVar
Risk	rs1057518662(-;-)
Alt	rs1057518662(-;-)
Reference	Rs1057518662(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.62038191delG
CLNSRC
CLNACC	RCV000414826.1,