rs1057516107

Orientation

minus

Stabilized

minus

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

Make rs1057516107(C;T)

Make rs1057516107(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433874

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516107
dbSNP (classic)	rs1057516107
ClinGen	rs1057516107
ebi	rs1057516107
HLI	rs1057516107
Exac	rs1057516107
Gnomad	rs1057516107
Varsome	rs1057516107
LitVar	rs1057516107
Map	rs1057516107
PheGenI	rs1057516107
Biobank	rs1057516107
1000 genomes	rs1057516107
hgdp	rs1057516107
ensembl	rs1057516107
geneview	rs1057516107
scholar	rs1057516107
google	rs1057516107
pharmgkb	rs1057516107
gwascentral	rs1057516107
openSNP	rs1057516107
23andMe	rs1057516107
SNPshot	rs1057516107
SNPdbe	rs1057516107
MSV3d	rs1057516107
GWAS Ctlg	rs1057516107

Max Magnitude

0

ClinVar
Risk	rs1057516107(T;T)
Alt	rs1057516107(T;T)
Reference	Rs1057516107(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62065227G>A
CLNSRC
CLNACC	RCV000408660.1,