rs1057516086

Orientation

minus

Stabilized

minus

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

Make rs1057516086(C;C)

Make rs1057516086(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444741

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516086
dbSNP (classic)	rs1057516086
ClinGen	rs1057516086
ebi	rs1057516086
HLI	rs1057516086
Exac	rs1057516086
Gnomad	rs1057516086
Varsome	rs1057516086
LitVar	rs1057516086
Map	rs1057516086
PheGenI	rs1057516086
Biobank	rs1057516086
1000 genomes	rs1057516086
hgdp	rs1057516086
ensembl	rs1057516086
geneview	rs1057516086
scholar	rs1057516086
google	rs1057516086
pharmgkb	rs1057516086
gwascentral	rs1057516086
openSNP	rs1057516086
23andMe	rs1057516086
SNPshot	rs1057516086
SNPdbe	rs1057516086
MSV3d	rs1057516086
GWAS Ctlg	rs1057516086

Max Magnitude

0

ClinVar
Risk	rs1057516086(C;C)
Alt	rs1057516086(C;C)
Reference	Rs1057516086(T;T)
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.62076094A>G
CLNSRC
CLNACC	RCV000408729.1,