rs1057516124

Orientation

minus

Stabilized

minus

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

Make rs1057516124(C;T)

Make rs1057516124(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63408517

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516124
dbSNP (classic)	rs1057516124
ClinGen	rs1057516124
ebi	rs1057516124
HLI	rs1057516124
Exac	rs1057516124
Gnomad	rs1057516124
Varsome	rs1057516124
LitVar	rs1057516124
Map	rs1057516124
PheGenI	rs1057516124
Biobank	rs1057516124
1000 genomes	rs1057516124
hgdp	rs1057516124
ensembl	rs1057516124
geneview	rs1057516124
scholar	rs1057516124
google	rs1057516124
pharmgkb	rs1057516124
gwascentral	rs1057516124
openSNP	rs1057516124
23andMe	rs1057516124
SNPshot	rs1057516124
SNPdbe	rs1057516124
MSV3d	rs1057516124
GWAS Ctlg	rs1057516124

Max Magnitude

0

ClinVar
Risk	rs1057516124(T;T)
Alt	rs1057516124(T;T)
Reference	Rs1057516124(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62039870G>A
CLNSRC
CLNACC	RCV000408668.1,