rs1057516111

Orientation

minus

Stabilized

minus

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

Make rs1057516111(A;G)

Make rs1057516111(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433842

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516111
dbSNP (classic)	rs1057516111
ClinGen	rs1057516111
ebi	rs1057516111
HLI	rs1057516111
Exac	rs1057516111
Gnomad	rs1057516111
Varsome	rs1057516111
LitVar	rs1057516111
Map	rs1057516111
PheGenI	rs1057516111
Biobank	rs1057516111
1000 genomes	rs1057516111
hgdp	rs1057516111
ensembl	rs1057516111
geneview	rs1057516111
scholar	rs1057516111
google	rs1057516111
pharmgkb	rs1057516111
gwascentral	rs1057516111
openSNP	rs1057516111
23andMe	rs1057516111
SNPshot	rs1057516111
SNPdbe	rs1057516111
MSV3d	rs1057516111
GWAS Ctlg	rs1057516111

Max Magnitude

0

ClinVar
Risk	rs1057516111(G;G)
Alt	rs1057516111(G;G)
Reference	Rs1057516111(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.62065195T>C
CLNSRC
CLNACC	RCV000408739.1,