rs1057516100

Orientation

minus

Stabilized

minus

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

Make rs1057516100(C;C)

Make rs1057516100(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439614

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516100
dbSNP (classic)	rs1057516100
ClinGen	rs1057516100
ebi	rs1057516100
HLI	rs1057516100
Exac	rs1057516100
Gnomad	rs1057516100
Varsome	rs1057516100
LitVar	rs1057516100
Map	rs1057516100
PheGenI	rs1057516100
Biobank	rs1057516100
1000 genomes	rs1057516100
hgdp	rs1057516100
ensembl	rs1057516100
geneview	rs1057516100
scholar	rs1057516100
google	rs1057516100
pharmgkb	rs1057516100
gwascentral	rs1057516100
openSNP	rs1057516100
23andMe	rs1057516100
SNPshot	rs1057516100
SNPdbe	rs1057516100
MSV3d	rs1057516100
GWAS Ctlg	rs1057516100

Max Magnitude

0

ClinVar
Risk	rs1057516100(C;C)
Alt	rs1057516100(C;C)
Reference	Rs1057516100(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.62070967A>G
CLNSRC
CLNACC	RCV000408750.1,