rs74315391

Orientation

minus

Stabilized

minus

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

Make rs74315391(C;T)

Make rs74315391(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444730

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs74315391
dbSNP (classic)	rs74315391
ClinGen	rs74315391
ebi	rs74315391
HLI	rs74315391
Exac	rs74315391
Gnomad	rs74315391
Varsome	rs74315391
LitVar	rs74315391
Map	rs74315391
PheGenI	rs74315391
Biobank	rs74315391
1000 genomes	rs74315391
hgdp	rs74315391
ensembl	rs74315391
geneview	rs74315391
scholar	rs74315391
google	rs74315391
pharmgkb	rs74315391
gwascentral	rs74315391
openSNP	rs74315391
23andMe	rs74315391
SNPshot	rs74315391
SNPdbe	rs74315391
MSV3d	rs74315391
GWAS Ctlg	rs74315391

GMAF

0.0

Max Magnitude

0

OMIM	602235
Desc
Variant	0006
Related	also

ClinVar
Risk	rs74315391(T;T)
Alt	rs74315391(T;T)
Reference	Rs74315391(C;C)
Significance	Pathogenic
Disease	Seizures Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Seizures, benign familial neonatal, 1, and/or myokymia Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62076083G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007811.2, RCV000021001.2, RCV000187862.1,