rs1057516123

Orientation

minus

Stabilized

minus

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

Make rs1057516123(A;G)

Make rs1057516123(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63413481

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs1057516123
dbSNP (classic)	rs1057516123
ClinGen	rs1057516123
ebi	rs1057516123
HLI	rs1057516123
Exac	rs1057516123
Gnomad	rs1057516123
Varsome	rs1057516123
LitVar	rs1057516123
Map	rs1057516123
PheGenI	rs1057516123
Biobank	rs1057516123
1000 genomes	rs1057516123
hgdp	rs1057516123
ensembl	rs1057516123
geneview	rs1057516123
scholar	rs1057516123
google	rs1057516123
pharmgkb	rs1057516123
gwascentral	rs1057516123
openSNP	rs1057516123
23andMe	rs1057516123
SNPshot	rs1057516123
SNPdbe	rs1057516123
MSV3d	rs1057516123
GWAS Ctlg	rs1057516123

Max Magnitude

0

ClinVar
Risk	rs1057516123(G;G)
Alt	rs1057516123(G;G)
Reference	Rs1057516123(A;A)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62044834T>C
CLNSRC
CLNACC	RCV000408658.1, RCV000480958.1,