rs1057516106

Orientation

minus

Stabilized

minus

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

Make rs1057516106(C;G)

Make rs1057516106(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433876

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516106
dbSNP (classic)	rs1057516106
ClinGen	rs1057516106
ebi	rs1057516106
HLI	rs1057516106
Exac	rs1057516106
Gnomad	rs1057516106
Varsome	rs1057516106
LitVar	rs1057516106
Map	rs1057516106
PheGenI	rs1057516106
Biobank	rs1057516106
1000 genomes	rs1057516106
hgdp	rs1057516106
ensembl	rs1057516106
geneview	rs1057516106
scholar	rs1057516106
google	rs1057516106
pharmgkb	rs1057516106
gwascentral	rs1057516106
openSNP	rs1057516106
23andMe	rs1057516106
SNPshot	rs1057516106
SNPdbe	rs1057516106
MSV3d	rs1057516106
GWAS Ctlg	rs1057516106

Max Magnitude

0

ClinVar
Risk	rs1057516106(G;G) rs1057516106(T;T)
Alt	rs1057516106(G;G) rs1057516106(T;T)
Reference	Rs1057516106(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.62065229G>A; NC_000020.10:g.62065229G>C
CLNSRC
CLNACC	RCV000408741.1, RCV000408696.1,