rs1057516077

Orientation

minus

Stabilized

minus

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

Make rs1057516077(C;T)

Make rs1057516077(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63446793

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516077
dbSNP (classic)	rs1057516077
ClinGen	rs1057516077
ebi	rs1057516077
HLI	rs1057516077
Exac	rs1057516077
Gnomad	rs1057516077
Varsome	rs1057516077
LitVar	rs1057516077
Map	rs1057516077
PheGenI	rs1057516077
Biobank	rs1057516077
1000 genomes	rs1057516077
hgdp	rs1057516077
ensembl	rs1057516077
geneview	rs1057516077
scholar	rs1057516077
google	rs1057516077
pharmgkb	rs1057516077
gwascentral	rs1057516077
openSNP	rs1057516077
23andMe	rs1057516077
SNPshot	rs1057516077
SNPdbe	rs1057516077
MSV3d	rs1057516077
GWAS Ctlg	rs1057516077

Max Magnitude

0

ClinVar
Risk	rs1057516077(T;T)
Alt	rs1057516077(T;T)
Reference	Rs1057516077(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.62078146G>A
CLNSRC
CLNACC	RCV000408706.1,