rs35450031

Orientation

minus

Stabilized

minus

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

Make rs35450031(C;T)

Make rs35450031(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

20

Position

63413524

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs35450031
dbSNP (classic)	rs35450031
ClinGen	rs35450031
ebi	rs35450031
HLI	rs35450031
Exac	rs35450031
Gnomad	rs35450031
Varsome	rs35450031
LitVar	rs35450031
Map	rs35450031
PheGenI	rs35450031
Biobank	rs35450031
1000 genomes	rs35450031
hgdp	rs35450031
ensembl	rs35450031
geneview	rs35450031
scholar	rs35450031
google	rs35450031
pharmgkb	rs35450031
gwascentral	rs35450031
openSNP	rs35450031
23andMe	rs35450031
SNPshot	rs35450031
SNPdbe	rs35450031
MSV3d	rs35450031
GWAS Ctlg	rs35450031

Max Magnitude

0

ClinVar
Risk	rs35450031(G;G) rs35450031(T;T)
Alt	rs35450031(G;G) rs35450031(T;T)
Reference	Rs35450031(C;C)
Significance	Pathogenic
Disease	not specified Early infantile epileptic encephalopathy KCNQ2-Related Disorders Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	not specified Early infantile epileptic encephalopathy KCNQ2-Related Disorders Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62044877G>A; NC_000020.10:g.62044877G>C
CLNSRC	Illumina
CLNACC	RCV000126464.2, RCV000232689.2, RCV000329532.1, RCV000408721.1, RCV000408688.1,