rs1057516097

Orientation

minus

Stabilized

minus

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

Make rs1057516097(A;A)

Make rs1057516097(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439671

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516097
dbSNP (classic)	rs1057516097
ClinGen	rs1057516097
ebi	rs1057516097
HLI	rs1057516097
Exac	rs1057516097
Gnomad	rs1057516097
Varsome	rs1057516097
LitVar	rs1057516097
Map	rs1057516097
PheGenI	rs1057516097
Biobank	rs1057516097
1000 genomes	rs1057516097
hgdp	rs1057516097
ensembl	rs1057516097
geneview	rs1057516097
scholar	rs1057516097
google	rs1057516097
pharmgkb	rs1057516097
gwascentral	rs1057516097
openSNP	rs1057516097
23andMe	rs1057516097
SNPshot	rs1057516097
SNPdbe	rs1057516097
MSV3d	rs1057516097
GWAS Ctlg	rs1057516097

Max Magnitude

0

ClinVar
Risk	rs1057516097(A;A)
Alt	rs1057516097(A;A)
Reference	Rs1057516097(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.62071024G>T
CLNSRC
CLNACC	RCV000408692.1,