rs1057516103

Orientation

minus

Stabilized

minus

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

Make rs1057516103(A;C)

Make rs1057516103(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63438675

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516103
dbSNP (classic)	rs1057516103
ClinGen	rs1057516103
ebi	rs1057516103
HLI	rs1057516103
Exac	rs1057516103
Gnomad	rs1057516103
Varsome	rs1057516103
LitVar	rs1057516103
Map	rs1057516103
PheGenI	rs1057516103
Biobank	rs1057516103
1000 genomes	rs1057516103
hgdp	rs1057516103
ensembl	rs1057516103
geneview	rs1057516103
scholar	rs1057516103
google	rs1057516103
pharmgkb	rs1057516103
gwascentral	rs1057516103
openSNP	rs1057516103
23andMe	rs1057516103
SNPshot	rs1057516103
SNPdbe	rs1057516103
MSV3d	rs1057516103
GWAS Ctlg	rs1057516103

Max Magnitude

0

ClinVar
Risk	rs1057516103(C;C) rs1057516103(G;G)
Alt	rs1057516103(C;C) rs1057516103(G;G)
Reference	Rs1057516103(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.62070028T>C; NC_000020.10:g.62070028T>G
CLNSRC
CLNACC	RCV000408686.1, RCV000408656.1,