rs1057516082

Orientation

minus

Stabilized

minus

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

Make rs1057516082(C;C)

Make rs1057516082(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444826

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516082
dbSNP (classic)	rs1057516082
ClinGen	rs1057516082
ebi	rs1057516082
HLI	rs1057516082
Exac	rs1057516082
Gnomad	rs1057516082
Varsome	rs1057516082
LitVar	rs1057516082
Map	rs1057516082
PheGenI	rs1057516082
Biobank	rs1057516082
1000 genomes	rs1057516082
hgdp	rs1057516082
ensembl	rs1057516082
geneview	rs1057516082
scholar	rs1057516082
google	rs1057516082
pharmgkb	rs1057516082
gwascentral	rs1057516082
openSNP	rs1057516082
23andMe	rs1057516082
SNPshot	rs1057516082
SNPdbe	rs1057516082
MSV3d	rs1057516082
GWAS Ctlg	rs1057516082

Max Magnitude

0

ClinVar
Risk	rs1057516082(C;C)
Alt	rs1057516082(C;C)
Reference	Rs1057516082(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.62076179C>G
CLNSRC
CLNACC	RCV000408665.1,