rs1057516081

Orientation

minus

Stabilized

minus

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

Make rs1057516081(A;A)

Make rs1057516081(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63445276

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516081
dbSNP (classic)	rs1057516081
ClinGen	rs1057516081
ebi	rs1057516081
HLI	rs1057516081
Exac	rs1057516081
Gnomad	rs1057516081
Varsome	rs1057516081
LitVar	rs1057516081
Map	rs1057516081
PheGenI	rs1057516081
Biobank	rs1057516081
1000 genomes	rs1057516081
hgdp	rs1057516081
ensembl	rs1057516081
geneview	rs1057516081
scholar	rs1057516081
google	rs1057516081
pharmgkb	rs1057516081
gwascentral	rs1057516081
openSNP	rs1057516081
23andMe	rs1057516081
SNPshot	rs1057516081
SNPdbe	rs1057516081
MSV3d	rs1057516081
GWAS Ctlg	rs1057516081

Max Magnitude

0

ClinVar
Risk	rs1057516081(A;A)
Alt	rs1057516081(A;A)
Reference	Rs1057516081(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.62076629C>T
CLNSRC
CLNACC	RCV000408723.1,