rs1057516105

Orientation

minus

Stabilized

minus

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

Make rs1057516105(C;C)

Make rs1057516105(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433897

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516105
dbSNP (classic)	rs1057516105
ClinGen	rs1057516105
ebi	rs1057516105
HLI	rs1057516105
Exac	rs1057516105
Gnomad	rs1057516105
Varsome	rs1057516105
LitVar	rs1057516105
Map	rs1057516105
PheGenI	rs1057516105
Biobank	rs1057516105
1000 genomes	rs1057516105
hgdp	rs1057516105
ensembl	rs1057516105
geneview	rs1057516105
scholar	rs1057516105
google	rs1057516105
pharmgkb	rs1057516105
gwascentral	rs1057516105
openSNP	rs1057516105
23andMe	rs1057516105
SNPshot	rs1057516105
SNPdbe	rs1057516105
MSV3d	rs1057516105
GWAS Ctlg	rs1057516105

Max Magnitude

0

ClinVar
Risk	rs1057516105(C;C)
Alt	rs1057516105(C;C)
Reference	Rs1057516105(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.62065250A>G
CLNSRC
CLNACC	RCV000408662.1,