rs796052645

Orientation

minus

Stabilized

minus

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

Make rs796052645(A;A)

Make rs796052645(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

63433869

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs796052645
dbSNP (classic)	rs796052645
ClinGen	rs796052645
ebi	rs796052645
HLI	rs796052645
Exac	rs796052645
Gnomad	rs796052645
Varsome	rs796052645
LitVar	rs796052645
Map	rs796052645
PheGenI	rs796052645
Biobank	rs796052645
1000 genomes	rs796052645
hgdp	rs796052645
ensembl	rs796052645
geneview	rs796052645
scholar	rs796052645
google	rs796052645
pharmgkb	rs796052645
gwascentral	rs796052645
openSNP	rs796052645
23andMe	rs796052645
SNPshot	rs796052645
SNPdbe	rs796052645
MSV3d	rs796052645
GWAS Ctlg	rs796052645

Max Magnitude

0

ClinVar
Risk	rs796052645(A;A)
Alt	rs796052645(A;A)
Reference	Rs796052645(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.62065222C>T
CLNSRC
CLNACC	RCV000187896.2, RCV000408733.1,