rs1057516096

Orientation

minus

Stabilized

minus

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

Make rs1057516096(G;T)

Make rs1057516096(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439690

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516096
dbSNP (classic)	rs1057516096
ClinGen	rs1057516096
ebi	rs1057516096
HLI	rs1057516096
Exac	rs1057516096
Gnomad	rs1057516096
Varsome	rs1057516096
LitVar	rs1057516096
Map	rs1057516096
PheGenI	rs1057516096
Biobank	rs1057516096
1000 genomes	rs1057516096
hgdp	rs1057516096
ensembl	rs1057516096
geneview	rs1057516096
scholar	rs1057516096
google	rs1057516096
pharmgkb	rs1057516096
gwascentral	rs1057516096
openSNP	rs1057516096
23andMe	rs1057516096
SNPshot	rs1057516096
SNPdbe	rs1057516096
MSV3d	rs1057516096
GWAS Ctlg	rs1057516096

Max Magnitude

0

ClinVar
Risk	rs1057516096(T;T)
Alt	rs1057516096(T;T)
Reference	Rs1057516096(G;G)
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.62071043C>A
CLNSRC
CLNACC	RCV000408698.1,