rs1057516080

Orientation

minus

Stabilized

minus

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

Make rs1057516080(A;A)

Make rs1057516080(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63445277

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516080
dbSNP (classic)	rs1057516080
ClinGen	rs1057516080
ebi	rs1057516080
HLI	rs1057516080
Exac	rs1057516080
Gnomad	rs1057516080
Varsome	rs1057516080
LitVar	rs1057516080
Map	rs1057516080
PheGenI	rs1057516080
Biobank	rs1057516080
1000 genomes	rs1057516080
hgdp	rs1057516080
ensembl	rs1057516080
geneview	rs1057516080
scholar	rs1057516080
google	rs1057516080
pharmgkb	rs1057516080
gwascentral	rs1057516080
openSNP	rs1057516080
23andMe	rs1057516080
SNPshot	rs1057516080
SNPdbe	rs1057516080
MSV3d	rs1057516080
GWAS Ctlg	rs1057516080

Max Magnitude

0

ClinVar
Risk	rs1057516080(A;A)
Alt	rs1057516080(A;A)
Reference	Rs1057516080(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.62076630C>T
CLNSRC
CLNACC	RCV000408691.1,