rs727503974

Orientation

minus

Stabilized

minus

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

Make rs727503974(C;T)

Make rs727503974(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

20

Position

63439704

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs727503974
dbSNP (classic)	rs727503974
ClinGen	rs727503974
ebi	rs727503974
HLI	rs727503974
Exac	rs727503974
Gnomad	rs727503974
Varsome	rs727503974
LitVar	rs727503974
Map	rs727503974
PheGenI	rs727503974
Biobank	rs727503974
1000 genomes	rs727503974
hgdp	rs727503974
ensembl	rs727503974
geneview	rs727503974
scholar	rs727503974
google	rs727503974
pharmgkb	rs727503974
gwascentral	rs727503974
openSNP	rs727503974
23andMe	rs727503974
SNPshot	rs727503974
SNPdbe	rs727503974
MSV3d	rs727503974
GWAS Ctlg	rs727503974

Max Magnitude

0

ClinVar
Risk	rs727503974(T;T)
Alt	rs727503974(T;T)
Reference	Rs727503974(C;C)
Significance	Pathogenic
Disease	not provided Early infantile epileptic encephalopathy 7 not specified
Variation	info
Gene	KCNQ2
CLNDBN	not provided Early infantile epileptic encephalopathy 7 not specified
Reversed	1
HGVS	NC_000020.10:g.62071057G>A
CLNSRC	HGMD
CLNACC	RCV000153394.5, RCV000203603.2, RCV000259099.1,