rs1057516114

Orientation

minus

Stabilized

minus

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

Make rs1057516114(-;-)

Make rs1057516114(-;AG)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63428388

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516114
dbSNP (classic)	rs1057516114
ClinGen	rs1057516114
ebi	rs1057516114
HLI	rs1057516114
Exac	rs1057516114
Gnomad	rs1057516114
Varsome	rs1057516114
LitVar	rs1057516114
Map	rs1057516114
PheGenI	rs1057516114
Biobank	rs1057516114
1000 genomes	rs1057516114
hgdp	rs1057516114
ensembl	rs1057516114
geneview	rs1057516114
scholar	rs1057516114
google	rs1057516114
pharmgkb	rs1057516114
gwascentral	rs1057516114
openSNP	rs1057516114
23andMe	rs1057516114
SNPshot	rs1057516114
SNPdbe	rs1057516114
MSV3d	rs1057516114
GWAS Ctlg	rs1057516114

Max Magnitude

0

ClinVar
Risk	rs1057516114(-;-)
Alt	rs1057516114(-;-)
Reference	Rs1057516114(AG;AG)
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.62059741_62059742delCT
CLNSRC
CLNACC	RCV000408681.1,