rs727503973

Orientation

minus

Stabilized

minus

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

Make rs727503973(C;T)

Make rs727503973(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

20

Position

63439665

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs727503973
dbSNP (classic)	rs727503973
ClinGen	rs727503973
ebi	rs727503973
HLI	rs727503973
Exac	rs727503973
Gnomad	rs727503973
Varsome	rs727503973
LitVar	rs727503973
Map	rs727503973
PheGenI	rs727503973
Biobank	rs727503973
1000 genomes	rs727503973
hgdp	rs727503973
ensembl	rs727503973
geneview	rs727503973
scholar	rs727503973
google	rs727503973
pharmgkb	rs727503973
gwascentral	rs727503973
openSNP	rs727503973
23andMe	rs727503973
SNPshot	rs727503973
SNPdbe	rs727503973
MSV3d	rs727503973
GWAS Ctlg	rs727503973

Max Magnitude

0

ClinVar
Risk	rs727503973(A;A) rs727503973(T;T)
Alt	rs727503973(A;A) rs727503973(T;T)
Reference	Rs727503973(C;C)
Significance	Pathogenic
Disease	not specified Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	not specified Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62071018G>A; NC_000020.10:g.62071018G>T
CLNSRC
CLNACC	RCV000153393.3, RCV000408735.1,