rs1057516093

Orientation

minus

Stabilized

minus

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

Make rs1057516093(A;A)

Make rs1057516093(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63442465

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516093
dbSNP (classic)	rs1057516093
ClinGen	rs1057516093
ebi	rs1057516093
HLI	rs1057516093
Exac	rs1057516093
Gnomad	rs1057516093
Varsome	rs1057516093
LitVar	rs1057516093
Map	rs1057516093
PheGenI	rs1057516093
Biobank	rs1057516093
1000 genomes	rs1057516093
hgdp	rs1057516093
ensembl	rs1057516093
geneview	rs1057516093
scholar	rs1057516093
google	rs1057516093
pharmgkb	rs1057516093
gwascentral	rs1057516093
openSNP	rs1057516093
23andMe	rs1057516093
SNPshot	rs1057516093
SNPdbe	rs1057516093
MSV3d	rs1057516093
GWAS Ctlg	rs1057516093

Max Magnitude

0

ClinVar
Risk	rs1057516093(A;A)
Alt	rs1057516093(A;A)
Reference	Rs1057516093(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.62073818C>T
CLNSRC
CLNACC	RCV000408751.1,