rs1060499545

Orientation

minus

Stabilized

minus

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

Make rs1060499545(A;A)

Make rs1060499545(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63413478

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs1060499545
dbSNP (classic)	rs1060499545
ClinGen	rs1060499545
ebi	rs1060499545
HLI	rs1060499545
Exac	rs1060499545
Gnomad	rs1060499545
Varsome	rs1060499545
LitVar	rs1060499545
Map	rs1060499545
PheGenI	rs1060499545
Biobank	rs1060499545
1000 genomes	rs1060499545
hgdp	rs1060499545
ensembl	rs1060499545
geneview	rs1060499545
scholar	rs1060499545
google	rs1060499545
pharmgkb	rs1060499545
gwascentral	rs1060499545
openSNP	rs1060499545
23andMe	rs1060499545
SNPshot	rs1060499545
SNPdbe	rs1060499545
MSV3d	rs1060499545
GWAS Ctlg	rs1060499545

Max Magnitude

0

ClinVar
Risk	rs1060499545(A;A)
Alt	rs1060499545(A;A)
Reference	Rs1060499545(C;C)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62044831G>T
CLNSRC
CLNACC	RCV000408720.1,