rs1057516110

Orientation

minus

Stabilized

minus

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

Make rs1057516110(C;T)

Make rs1057516110(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433854

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516110
dbSNP (classic)	rs1057516110
ClinGen	rs1057516110
ebi	rs1057516110
HLI	rs1057516110
Exac	rs1057516110
Gnomad	rs1057516110
Varsome	rs1057516110
LitVar	rs1057516110
Map	rs1057516110
PheGenI	rs1057516110
Biobank	rs1057516110
1000 genomes	rs1057516110
hgdp	rs1057516110
ensembl	rs1057516110
geneview	rs1057516110
scholar	rs1057516110
google	rs1057516110
pharmgkb	rs1057516110
gwascentral	rs1057516110
openSNP	rs1057516110
23andMe	rs1057516110
SNPshot	rs1057516110
SNPdbe	rs1057516110
MSV3d	rs1057516110
GWAS Ctlg	rs1057516110

Max Magnitude

0

ClinVar
Risk	rs1057516110(T;T)
Alt	rs1057516110(T;T)
Reference	Rs1057516110(C;C)
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.62065207G>A
CLNSRC
CLNACC	RCV000408708.1,