rs1057516116

Orientation

minus

Stabilized

minus

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

Make rs1057516116(A;C)

Make rs1057516116(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63415046

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516116
dbSNP (classic)	rs1057516116
ClinGen	rs1057516116
ebi	rs1057516116
HLI	rs1057516116
Exac	rs1057516116
Gnomad	rs1057516116
Varsome	rs1057516116
LitVar	rs1057516116
Map	rs1057516116
PheGenI	rs1057516116
Biobank	rs1057516116
1000 genomes	rs1057516116
hgdp	rs1057516116
ensembl	rs1057516116
geneview	rs1057516116
scholar	rs1057516116
google	rs1057516116
pharmgkb	rs1057516116
gwascentral	rs1057516116
openSNP	rs1057516116
23andMe	rs1057516116
SNPshot	rs1057516116
SNPdbe	rs1057516116
MSV3d	rs1057516116
GWAS Ctlg	rs1057516116

Max Magnitude

0

ClinVar
Risk	rs1057516116(C;C)
Alt	rs1057516116(C;C)
Reference	Rs1057516116(A;A)
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.62046399T>G
CLNSRC
CLNACC	RCV000408727.1,