rs397514582

Orientation

minus

Stabilized

minus

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

Make rs397514582(A;A)

Make rs397514582(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63439656

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs397514582
dbSNP (classic)	rs397514582
ClinGen	rs397514582
ebi	rs397514582
HLI	rs397514582
Exac	rs397514582
Gnomad	rs397514582
Varsome	rs397514582
LitVar	rs397514582
Map	rs397514582
PheGenI	rs397514582
Biobank	rs397514582
1000 genomes	rs397514582
hgdp	rs397514582
ensembl	rs397514582
geneview	rs397514582
scholar	rs397514582
google	rs397514582
pharmgkb	rs397514582
gwascentral	rs397514582
openSNP	rs397514582
23andMe	rs397514582
SNPshot	rs397514582
SNPdbe	rs397514582
MSV3d	rs397514582
GWAS Ctlg	rs397514582

Max Magnitude

0

ClinVar
Risk	rs397514582(A;A)
Alt	rs397514582(A;A)
Reference	Rs397514582(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62071009C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032981.2, RCV000408716.1,