rs1057516083

Orientation

minus

Stabilized

minus

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

Make rs1057516083(G;T)

Make rs1057516083(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444783

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516083
dbSNP (classic)	rs1057516083
ClinGen	rs1057516083
ebi	rs1057516083
HLI	rs1057516083
Exac	rs1057516083
Gnomad	rs1057516083
Varsome	rs1057516083
LitVar	rs1057516083
Map	rs1057516083
PheGenI	rs1057516083
Biobank	rs1057516083
1000 genomes	rs1057516083
hgdp	rs1057516083
ensembl	rs1057516083
geneview	rs1057516083
scholar	rs1057516083
google	rs1057516083
pharmgkb	rs1057516083
gwascentral	rs1057516083
openSNP	rs1057516083
23andMe	rs1057516083
SNPshot	rs1057516083
SNPdbe	rs1057516083
MSV3d	rs1057516083
GWAS Ctlg	rs1057516083

Max Magnitude

0

ClinVar
Risk	rs1057516083(T;T)
Alt	rs1057516083(T;T)
Reference	Rs1057516083(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.62076136C>A
CLNSRC
CLNACC	RCV000408659.1,