rs1057516121

Orientation

minus

Stabilized

minus

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

Make rs1057516121(A;A)

Make rs1057516121(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63414087

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516121
dbSNP (classic)	rs1057516121
ClinGen	rs1057516121
ebi	rs1057516121
HLI	rs1057516121
Exac	rs1057516121
Gnomad	rs1057516121
Varsome	rs1057516121
LitVar	rs1057516121
Map	rs1057516121
PheGenI	rs1057516121
Biobank	rs1057516121
1000 genomes	rs1057516121
hgdp	rs1057516121
ensembl	rs1057516121
geneview	rs1057516121
scholar	rs1057516121
google	rs1057516121
pharmgkb	rs1057516121
gwascentral	rs1057516121
openSNP	rs1057516121
23andMe	rs1057516121
SNPshot	rs1057516121
SNPdbe	rs1057516121
MSV3d	rs1057516121
GWAS Ctlg	rs1057516121

Max Magnitude

0

ClinVar
Risk	rs1057516121(A;A)
Alt	rs1057516121(A;A)
Reference	Rs1057516121(G;G)
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.62045440C>T
CLNSRC
CLNACC	RCV000408673.1, RCV000428513.1,