rs1057516122

Orientation

minus

Stabilized

minus

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

Make rs1057516122(A;C)

Make rs1057516122(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63413558

Gene	KCNQ2, LOC105372724

is a	snp
is	mentioned by
dbSNP	rs1057516122
dbSNP (classic)	rs1057516122
ClinGen	rs1057516122
ebi	rs1057516122
HLI	rs1057516122
Exac	rs1057516122
Gnomad	rs1057516122
Varsome	rs1057516122
LitVar	rs1057516122
Map	rs1057516122
PheGenI	rs1057516122
Biobank	rs1057516122
1000 genomes	rs1057516122
hgdp	rs1057516122
ensembl	rs1057516122
geneview	rs1057516122
scholar	rs1057516122
google	rs1057516122
pharmgkb	rs1057516122
gwascentral	rs1057516122
openSNP	rs1057516122
23andMe	rs1057516122
SNPshot	rs1057516122
SNPdbe	rs1057516122
MSV3d	rs1057516122
GWAS Ctlg	rs1057516122

Max Magnitude

0

ClinVar
Risk	rs1057516122(C;C)
Alt	rs1057516122(C;C)
Reference	Rs1057516122(A;A)
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.62044911T>G
CLNSRC
CLNACC	RCV000408742.1,