rs1057516118

Orientation

minus

Stabilized

minus

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

Make rs1057516118(C;C)

Make rs1057516118(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63414927

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516118
dbSNP (classic)	rs1057516118
ClinGen	rs1057516118
ebi	rs1057516118
HLI	rs1057516118
Exac	rs1057516118
Gnomad	rs1057516118
Varsome	rs1057516118
LitVar	rs1057516118
Map	rs1057516118
PheGenI	rs1057516118
Biobank	rs1057516118
1000 genomes	rs1057516118
hgdp	rs1057516118
ensembl	rs1057516118
geneview	rs1057516118
scholar	rs1057516118
google	rs1057516118
pharmgkb	rs1057516118
gwascentral	rs1057516118
openSNP	rs1057516118
23andMe	rs1057516118
SNPshot	rs1057516118
SNPdbe	rs1057516118
MSV3d	rs1057516118
GWAS Ctlg	rs1057516118

Max Magnitude

0

ClinVar
Risk	rs1057516118(C;C)
Alt	rs1057516118(C;C)
Reference	Rs1057516118(G;G)
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.62046280C>G
CLNSRC
CLNACC	RCV000408731.1,