rs1057516079

Orientation

minus

Stabilized

minus

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

Make rs1057516079(A;A)

Make rs1057516079(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63445281

Gene	KCNQ2, LOC105372720

is a	snp
is	mentioned by
dbSNP	rs1057516079
dbSNP (classic)	rs1057516079
ClinGen	rs1057516079
ebi	rs1057516079
HLI	rs1057516079
Exac	rs1057516079
Gnomad	rs1057516079
Varsome	rs1057516079
LitVar	rs1057516079
Map	rs1057516079
PheGenI	rs1057516079
Biobank	rs1057516079
1000 genomes	rs1057516079
hgdp	rs1057516079
ensembl	rs1057516079
geneview	rs1057516079
scholar	rs1057516079
google	rs1057516079
pharmgkb	rs1057516079
gwascentral	rs1057516079
openSNP	rs1057516079
23andMe	rs1057516079
SNPshot	rs1057516079
SNPdbe	rs1057516079
MSV3d	rs1057516079
GWAS Ctlg	rs1057516079

Max Magnitude

0

ClinVar
Risk	rs1057516079(A;A)
Alt	rs1057516079(A;A)
Reference	Rs1057516079(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.62076634C>T
CLNSRC
CLNACC	RCV000408724.1,