rs1030017847

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433874

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1030017847
dbSNP (classic)	rs1030017847
ClinGen	rs1030017847
ebi	rs1030017847
HLI	rs1030017847
Exac	rs1030017847
Gnomad	rs1030017847
Varsome	rs1030017847
LitVar	rs1030017847
Map	rs1030017847
PheGenI	rs1030017847
Biobank	rs1030017847
1000 genomes	rs1030017847
hgdp	rs1030017847
ensembl	rs1030017847
geneview	rs1030017847
scholar	rs1030017847
google	rs1030017847
pharmgkb	rs1030017847
gwascentral	rs1030017847
openSNP	rs1030017847
23andMe	rs1030017847
SNPshot	rs1030017847
SNPdbe	rs1030017847
MSV3d	rs1030017847
GWAS Ctlg	rs1030017847

Max Magnitude

0

ClinVar
Risk	rs1030017847(A;A)
Alt	rs1030017847(A;A)
Reference	Rs1030017847(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	0
HGVS	NC_000020.10:g.62065227G>A
CLNSRC
CLNACC	RCV000408660.1,