rs1057516078

Orientation

minus

Stabilized

minus

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

Make rs1057516078(G;G)

Make rs1057516078(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63445292

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516078
dbSNP (classic)	rs1057516078
ClinGen	rs1057516078
ebi	rs1057516078
HLI	rs1057516078
Exac	rs1057516078
Gnomad	rs1057516078
Varsome	rs1057516078
LitVar	rs1057516078
Map	rs1057516078
PheGenI	rs1057516078
Biobank	rs1057516078
1000 genomes	rs1057516078
hgdp	rs1057516078
ensembl	rs1057516078
geneview	rs1057516078
scholar	rs1057516078
google	rs1057516078
pharmgkb	rs1057516078
gwascentral	rs1057516078
openSNP	rs1057516078
23andMe	rs1057516078
SNPshot	rs1057516078
SNPdbe	rs1057516078
MSV3d	rs1057516078
GWAS Ctlg	rs1057516078

Max Magnitude

0

ClinVar
Risk	rs1057516078(G;G)
Alt	rs1057516078(G;G)
Reference	Rs1057516078(T;T)
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.62076645A>C
CLNSRC
CLNACC	RCV000408679.1,