rs796052651

Orientation

minus

Stabilized

minus

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

Make rs796052651(A;G)

Make rs796052651(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

63413547

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs796052651
dbSNP (classic)	rs796052651
ClinGen	rs796052651
ebi	rs796052651
HLI	rs796052651
Exac	rs796052651
Gnomad	rs796052651
Varsome	rs796052651
LitVar	rs796052651
Map	rs796052651
PheGenI	rs796052651
Biobank	rs796052651
1000 genomes	rs796052651
hgdp	rs796052651
ensembl	rs796052651
geneview	rs796052651
scholar	rs796052651
google	rs796052651
pharmgkb	rs796052651
gwascentral	rs796052651
openSNP	rs796052651
23andMe	rs796052651
SNPshot	rs796052651
SNPdbe	rs796052651
MSV3d	rs796052651
GWAS Ctlg	rs796052651

Max Magnitude

0

ClinVar
Risk	rs796052651(G;G)
Alt	rs796052651(G;G)
Reference	Rs796052651(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.62044900T>C
CLNSRC
CLNACC	RCV000408752.1,