rs28939684

Orientation

minus

Stabilized

minus

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

Make rs28939684(C;T)

Make rs28939684(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

63444709

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs28939684
dbSNP (classic)	rs28939684
ClinGen	rs28939684
ebi	rs28939684
HLI	rs28939684
Exac	rs28939684
Gnomad	rs28939684
Varsome	rs28939684
LitVar	rs28939684
Map	rs28939684
PheGenI	rs28939684
Biobank	rs28939684
1000 genomes	rs28939684
hgdp	rs28939684
ensembl	rs28939684
geneview	rs28939684
scholar	rs28939684
google	rs28939684
pharmgkb	rs28939684
gwascentral	rs28939684
openSNP	rs28939684
23andMe	rs28939684
SNPshot	rs28939684
SNPdbe	rs28939684
MSV3d	rs28939684
GWAS Ctlg	rs28939684

Max Magnitude

0

OMIM	602235
Desc	EPILEPSY, BENIGN NEONATAL, 1
Variant	0005
Related	also

ClinVar
Risk	rs28939684(T;T)
Alt	rs28939684(T;T)
Reference	Rs28939684(C;C)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1 not provided
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1 not provided
Reversed	1
HGVS	NC_000020.10:g.62076062G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000007810.4, RCV000178401.1,