rs1057516084

Orientation

minus

Stabilized

minus

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

Make rs1057516084(A;A)

Make rs1057516084(A;CGG)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444755

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516084
dbSNP (classic)	rs1057516084
ClinGen	rs1057516084
ebi	rs1057516084
HLI	rs1057516084
Exac	rs1057516084
Gnomad	rs1057516084
Varsome	rs1057516084
LitVar	rs1057516084
Map	rs1057516084
PheGenI	rs1057516084
Biobank	rs1057516084
1000 genomes	rs1057516084
hgdp	rs1057516084
ensembl	rs1057516084
geneview	rs1057516084
scholar	rs1057516084
google	rs1057516084
pharmgkb	rs1057516084
gwascentral	rs1057516084
openSNP	rs1057516084
23andMe	rs1057516084
SNPshot	rs1057516084
SNPdbe	rs1057516084
MSV3d	rs1057516084
GWAS Ctlg	rs1057516084

Max Magnitude

0

ClinVar
Risk	rs1057516084(A;A)
Alt	rs1057516084(A;A)
Reference	Rs1057516084(CGG;CGG)
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.62076108_62076110delCCGinsT
CLNSRC
CLNACC	RCV000408738.1,