rs796052653

Orientation

minus

Stabilized

minus

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

Make rs796052653(A;A)

Make rs796052653(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

63413526

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs796052653
dbSNP (classic)	rs796052653
ClinGen	rs796052653
ebi	rs796052653
HLI	rs796052653
Exac	rs796052653
Gnomad	rs796052653
Varsome	rs796052653
LitVar	rs796052653
Map	rs796052653
PheGenI	rs796052653
Biobank	rs796052653
1000 genomes	rs796052653
hgdp	rs796052653
ensembl	rs796052653
geneview	rs796052653
scholar	rs796052653
google	rs796052653
pharmgkb	rs796052653
gwascentral	rs796052653
openSNP	rs796052653
23andMe	rs796052653
SNPshot	rs796052653
SNPdbe	rs796052653
MSV3d	rs796052653
GWAS Ctlg	rs796052653

Max Magnitude

0

ClinVar
Risk	rs796052653(A;A)
Alt	rs796052653(A;A)
Reference	Rs796052653(G;G)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	not provided Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62044879C>A; NC_000020.10:g.62044879C>T
CLNSRC
CLNACC	RCV000493453.1, RCV000187917.3, RCV000408745.1,