rs1057516109

Orientation

minus

Stabilized

minus

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

Make rs1057516109(C;G)

Make rs1057516109(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433861

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516109
dbSNP (classic)	rs1057516109
ClinGen	rs1057516109
ebi	rs1057516109
HLI	rs1057516109
Exac	rs1057516109
Gnomad	rs1057516109
Varsome	rs1057516109
LitVar	rs1057516109
Map	rs1057516109
PheGenI	rs1057516109
Biobank	rs1057516109
1000 genomes	rs1057516109
hgdp	rs1057516109
ensembl	rs1057516109
geneview	rs1057516109
scholar	rs1057516109
google	rs1057516109
pharmgkb	rs1057516109
gwascentral	rs1057516109
openSNP	rs1057516109
23andMe	rs1057516109
SNPshot	rs1057516109
SNPdbe	rs1057516109
MSV3d	rs1057516109
GWAS Ctlg	rs1057516109

Max Magnitude

0

ClinVar
Risk	rs1057516109(G;G)
Alt	rs1057516109(G;G)
Reference	Rs1057516109(C;C)
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.62065214G>C
CLNSRC
CLNACC	RCV000408676.1,