rs1057516102

Orientation

minus

Stabilized

minus

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

Make rs1057516102(C;C)

Make rs1057516102(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63438721

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516102
dbSNP (classic)	rs1057516102
ClinGen	rs1057516102
ebi	rs1057516102
HLI	rs1057516102
Exac	rs1057516102
Gnomad	rs1057516102
Varsome	rs1057516102
LitVar	rs1057516102
Map	rs1057516102
PheGenI	rs1057516102
Biobank	rs1057516102
1000 genomes	rs1057516102
hgdp	rs1057516102
ensembl	rs1057516102
geneview	rs1057516102
scholar	rs1057516102
google	rs1057516102
pharmgkb	rs1057516102
gwascentral	rs1057516102
openSNP	rs1057516102
23andMe	rs1057516102
SNPshot	rs1057516102
SNPdbe	rs1057516102
MSV3d	rs1057516102
GWAS Ctlg	rs1057516102

Max Magnitude

0

ClinVar
Risk	rs1057516102(C;C)
Alt	rs1057516102(C;C)
Reference	Rs1057516102(G;G)
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.62070074C>G
CLNSRC
CLNACC	RCV000408680.1,