rs74315390

Orientation

minus

Stabilized

minus

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

Make rs74315390(A;A)

Make rs74315390(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63439609

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs74315390
dbSNP (classic)	rs74315390
ClinGen	rs74315390
ebi	rs74315390
HLI	rs74315390
Exac	rs74315390
Gnomad	rs74315390
Varsome	rs74315390
LitVar	rs74315390
Map	rs74315390
PheGenI	rs74315390
Biobank	rs74315390
1000 genomes	rs74315390
hgdp	rs74315390
ensembl	rs74315390
geneview	rs74315390
scholar	rs74315390
google	rs74315390
pharmgkb	rs74315390
gwascentral	rs74315390
openSNP	rs74315390
23andMe	rs74315390
SNPshot	rs74315390
SNPdbe	rs74315390
MSV3d	rs74315390
GWAS Ctlg	rs74315390

Max Magnitude

0

OMIM	602235
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315390(A;A) rs74315390(C;C)
Alt	rs74315390(A;A) rs74315390(C;C)
Reference	Rs74315390(G;G)
Significance	Pathogenic
Disease	not provided Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	not provided Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62070962C>G; NC_000020.10:g.62070962C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000187885.2, RCV000007807.3,