rs1057516091

Orientation

minus

Stabilized

minus

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

Make rs1057516091(A;C)

Make rs1057516091(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63442522

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516091
dbSNP (classic)	rs1057516091
ClinGen	rs1057516091
ebi	rs1057516091
HLI	rs1057516091
Exac	rs1057516091
Gnomad	rs1057516091
Varsome	rs1057516091
LitVar	rs1057516091
Map	rs1057516091
PheGenI	rs1057516091
Biobank	rs1057516091
1000 genomes	rs1057516091
hgdp	rs1057516091
ensembl	rs1057516091
geneview	rs1057516091
scholar	rs1057516091
google	rs1057516091
pharmgkb	rs1057516091
gwascentral	rs1057516091
openSNP	rs1057516091
23andMe	rs1057516091
SNPshot	rs1057516091
SNPdbe	rs1057516091
MSV3d	rs1057516091
GWAS Ctlg	rs1057516091

Max Magnitude

0

ClinVar
Risk	rs1057516091(C;C)
Alt	rs1057516091(C;C)
Reference	Rs1057516091(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.62073875T>G
CLNSRC
CLNACC	RCV000408689.1,