rs1057516108

Orientation

minus

Stabilized

minus

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

Make rs1057516108(C;C)

Make rs1057516108(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433873

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516108
dbSNP (classic)	rs1057516108
ClinGen	rs1057516108
ebi	rs1057516108
HLI	rs1057516108
Exac	rs1057516108
Gnomad	rs1057516108
Varsome	rs1057516108
LitVar	rs1057516108
Map	rs1057516108
PheGenI	rs1057516108
Biobank	rs1057516108
1000 genomes	rs1057516108
hgdp	rs1057516108
ensembl	rs1057516108
geneview	rs1057516108
scholar	rs1057516108
google	rs1057516108
pharmgkb	rs1057516108
gwascentral	rs1057516108
openSNP	rs1057516108
23andMe	rs1057516108
SNPshot	rs1057516108
SNPdbe	rs1057516108
MSV3d	rs1057516108
GWAS Ctlg	rs1057516108

Max Magnitude

0

ClinVar
Risk	rs1057516108(C;C)
Alt	rs1057516108(C;C)
Reference	Rs1057516108(T;T)
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.62065226A>G
CLNSRC
CLNACC	RCV000408704.1,