rs1057516076

Orientation

minus

Stabilized

minus

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

Make rs1057516076(A;G)

Make rs1057516076(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63446794

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516076
dbSNP (classic)	rs1057516076
ClinGen	rs1057516076
ebi	rs1057516076
HLI	rs1057516076
Exac	rs1057516076
Gnomad	rs1057516076
Varsome	rs1057516076
LitVar	rs1057516076
Map	rs1057516076
PheGenI	rs1057516076
Biobank	rs1057516076
1000 genomes	rs1057516076
hgdp	rs1057516076
ensembl	rs1057516076
geneview	rs1057516076
scholar	rs1057516076
google	rs1057516076
pharmgkb	rs1057516076
gwascentral	rs1057516076
openSNP	rs1057516076
23andMe	rs1057516076
SNPshot	rs1057516076
SNPdbe	rs1057516076
MSV3d	rs1057516076
GWAS Ctlg	rs1057516076

Max Magnitude

0

ClinVar
Risk	rs1057516076(G;G)
Alt	rs1057516076(G;G)
Reference	Rs1057516076(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.62078147T>C
CLNSRC
CLNACC	RCV000408687.1,