rs796052626

Orientation

minus

Stabilized

minus

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

Make rs796052626(C;T)

Make rs796052626(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

63444721

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs796052626
dbSNP (classic)	rs796052626
ClinGen	rs796052626
ebi	rs796052626
HLI	rs796052626
Exac	rs796052626
Gnomad	rs796052626
Varsome	rs796052626
LitVar	rs796052626
Map	rs796052626
PheGenI	rs796052626
Biobank	rs796052626
1000 genomes	rs796052626
hgdp	rs796052626
ensembl	rs796052626
geneview	rs796052626
scholar	rs796052626
google	rs796052626
pharmgkb	rs796052626
gwascentral	rs796052626
openSNP	rs796052626
23andMe	rs796052626
SNPshot	rs796052626
SNPdbe	rs796052626
MSV3d	rs796052626
GWAS Ctlg	rs796052626

Max Magnitude

0

ClinVar
Risk	rs796052626(T;T)
Alt	rs796052626(T;T)
Reference	Rs796052626(C;C)
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.62076074G>A
CLNSRC
CLNACC	RCV000408705.1,