rs1057516120

Orientation

minus

Stabilized

minus

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

Make rs1057516120(A;G)

Make rs1057516120(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63414098

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516120
dbSNP (classic)	rs1057516120
ClinGen	rs1057516120
ebi	rs1057516120
HLI	rs1057516120
Exac	rs1057516120
Gnomad	rs1057516120
Varsome	rs1057516120
LitVar	rs1057516120
Map	rs1057516120
PheGenI	rs1057516120
Biobank	rs1057516120
1000 genomes	rs1057516120
hgdp	rs1057516120
ensembl	rs1057516120
geneview	rs1057516120
scholar	rs1057516120
google	rs1057516120
pharmgkb	rs1057516120
gwascentral	rs1057516120
openSNP	rs1057516120
23andMe	rs1057516120
SNPshot	rs1057516120
SNPdbe	rs1057516120
MSV3d	rs1057516120
GWAS Ctlg	rs1057516120

Max Magnitude

0

ClinVar
Risk	rs1057516120(G;G)
Alt	rs1057516120(G;G)
Reference	Rs1057516120(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.62045451T>C
CLNSRC
CLNACC	RCV000408730.1,