rs1057516101

Orientation

minus

Stabilized

minus

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

Make rs1057516101(C;T)

Make rs1057516101(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439599

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516101
dbSNP (classic)	rs1057516101
ClinGen	rs1057516101
ebi	rs1057516101
HLI	rs1057516101
Exac	rs1057516101
Gnomad	rs1057516101
Varsome	rs1057516101
LitVar	rs1057516101
Map	rs1057516101
PheGenI	rs1057516101
Biobank	rs1057516101
1000 genomes	rs1057516101
hgdp	rs1057516101
ensembl	rs1057516101
geneview	rs1057516101
scholar	rs1057516101
google	rs1057516101
pharmgkb	rs1057516101
gwascentral	rs1057516101
openSNP	rs1057516101
23andMe	rs1057516101
SNPshot	rs1057516101
SNPdbe	rs1057516101
MSV3d	rs1057516101
GWAS Ctlg	rs1057516101

Max Magnitude

0

ClinVar
Risk	rs1057516101(T;T)
Alt	rs1057516101(T;T)
Reference	Rs1057516101(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.62070952G>A
CLNSRC
CLNACC	RCV000408749.1,