rs1057516094

Orientation

minus

Stabilized

minus

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

Make rs1057516094(C;T)

Make rs1057516094(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63442420

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516094
dbSNP (classic)	rs1057516094
ClinGen	rs1057516094
ebi	rs1057516094
HLI	rs1057516094
Exac	rs1057516094
Gnomad	rs1057516094
Varsome	rs1057516094
LitVar	rs1057516094
Map	rs1057516094
PheGenI	rs1057516094
Biobank	rs1057516094
1000 genomes	rs1057516094
hgdp	rs1057516094
ensembl	rs1057516094
geneview	rs1057516094
scholar	rs1057516094
google	rs1057516094
pharmgkb	rs1057516094
gwascentral	rs1057516094
openSNP	rs1057516094
23andMe	rs1057516094
SNPshot	rs1057516094
SNPdbe	rs1057516094
MSV3d	rs1057516094
GWAS Ctlg	rs1057516094

Max Magnitude

0

ClinVar
Risk	rs1057516094(T;T)
Alt	rs1057516094(T;T)
Reference	Rs1057516094(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62073773G>A
CLNSRC
CLNACC	RCV000408694.1, RCV000416991.1,