rs1057516089

Orientation

minus

Stabilized

minus

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

Make rs1057516089(A;G)

Make rs1057516089(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444700

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516089
dbSNP (classic)	rs1057516089
ClinGen	rs1057516089
ebi	rs1057516089
HLI	rs1057516089
Exac	rs1057516089
Gnomad	rs1057516089
Varsome	rs1057516089
LitVar	rs1057516089
Map	rs1057516089
PheGenI	rs1057516089
Biobank	rs1057516089
1000 genomes	rs1057516089
hgdp	rs1057516089
ensembl	rs1057516089
geneview	rs1057516089
scholar	rs1057516089
google	rs1057516089
pharmgkb	rs1057516089
gwascentral	rs1057516089
openSNP	rs1057516089
23andMe	rs1057516089
SNPshot	rs1057516089
SNPdbe	rs1057516089
MSV3d	rs1057516089
GWAS Ctlg	rs1057516089

Max Magnitude

0

ClinVar
Risk	rs1057516089(G;G)
Alt	rs1057516089(G;G)
Reference	Rs1057516089(A;A)
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.62076053T>C
CLNSRC
CLNACC	RCV000408717.1,