rs1057516113

Orientation

minus

Stabilized

minus

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

Make rs1057516113(-;-)

Make rs1057516113(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63431362

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516113
dbSNP (classic)	rs1057516113
ClinGen	rs1057516113
ebi	rs1057516113
HLI	rs1057516113
Exac	rs1057516113
Gnomad	rs1057516113
Varsome	rs1057516113
LitVar	rs1057516113
Map	rs1057516113
PheGenI	rs1057516113
Biobank	rs1057516113
1000 genomes	rs1057516113
hgdp	rs1057516113
ensembl	rs1057516113
geneview	rs1057516113
scholar	rs1057516113
google	rs1057516113
pharmgkb	rs1057516113
gwascentral	rs1057516113
openSNP	rs1057516113
23andMe	rs1057516113
SNPshot	rs1057516113
SNPdbe	rs1057516113
MSV3d	rs1057516113
GWAS Ctlg	rs1057516113

Max Magnitude

0

ClinVar
Risk	rs1057516113(-;-)
Alt	rs1057516113(-;-)
Reference	Rs1057516113(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.62062715delT
CLNSRC
CLNACC	RCV000408707.1,