rs1057516092

Orientation

minus

Stabilized

minus

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

Make rs1057516092(C;C)

Make rs1057516092(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63442507

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516092
dbSNP (classic)	rs1057516092
ClinGen	rs1057516092
ebi	rs1057516092
HLI	rs1057516092
Exac	rs1057516092
Gnomad	rs1057516092
Varsome	rs1057516092
LitVar	rs1057516092
Map	rs1057516092
PheGenI	rs1057516092
Biobank	rs1057516092
1000 genomes	rs1057516092
hgdp	rs1057516092
ensembl	rs1057516092
geneview	rs1057516092
scholar	rs1057516092
google	rs1057516092
pharmgkb	rs1057516092
gwascentral	rs1057516092
openSNP	rs1057516092
23andMe	rs1057516092
SNPshot	rs1057516092
SNPdbe	rs1057516092
MSV3d	rs1057516092
GWAS Ctlg	rs1057516092

Max Magnitude

0

ClinVar
Risk	rs1057516092(C;C)
Alt	rs1057516092(C;C)
Reference	Rs1057516092(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.62073860C>G
CLNSRC
CLNACC	RCV000408722.1,