rs1057516087

Orientation

minus

Stabilized

minus

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

Make rs1057516087(A;G)

Make rs1057516087(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444736

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516087
dbSNP (classic)	rs1057516087
ClinGen	rs1057516087
ebi	rs1057516087
HLI	rs1057516087
Exac	rs1057516087
Gnomad	rs1057516087
Varsome	rs1057516087
LitVar	rs1057516087
Map	rs1057516087
PheGenI	rs1057516087
Biobank	rs1057516087
1000 genomes	rs1057516087
hgdp	rs1057516087
ensembl	rs1057516087
geneview	rs1057516087
scholar	rs1057516087
google	rs1057516087
pharmgkb	rs1057516087
gwascentral	rs1057516087
openSNP	rs1057516087
23andMe	rs1057516087
SNPshot	rs1057516087
SNPdbe	rs1057516087
MSV3d	rs1057516087
GWAS Ctlg	rs1057516087

Max Magnitude

0

ClinVar
Risk	rs1057516087(G;G)
Alt	rs1057516087(G;G)
Reference	Rs1057516087(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.62076089T>C
CLNSRC
CLNACC	RCV000408672.1,