rs28939683

Orientation

minus

Stabilized

minus

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

Make rs28939683(A;G)

Make rs28939683(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63439674

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs28939683
dbSNP (classic)	rs28939683
ClinGen	rs28939683
ebi	rs28939683
HLI	rs28939683
Exac	rs28939683
Gnomad	rs28939683
Varsome	rs28939683
LitVar	rs28939683
Map	rs28939683
PheGenI	rs28939683
Biobank	rs28939683
1000 genomes	rs28939683
hgdp	rs28939683
ensembl	rs28939683
geneview	rs28939683
scholar	rs28939683
google	rs28939683
pharmgkb	rs28939683
gwascentral	rs28939683
openSNP	rs28939683
23andMe	rs28939683
SNPshot	rs28939683
SNPdbe	rs28939683
MSV3d	rs28939683
GWAS Ctlg	rs28939683

Max Magnitude

0

OMIM	602235
Desc	EPILEPSY, BENIGN NEONATAL, 1
Variant	0001
Related	also

ClinVar
Risk	rs28939683(G;G)
Alt	rs28939683(G;G)
Reference	Rs28939683(A;A)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62071027T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007806.3,