rs1057516098

Orientation

minus

Stabilized

minus

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

Make rs1057516098(A;A)

Make rs1057516098(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439657

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516098
dbSNP (classic)	rs1057516098
ClinGen	rs1057516098
ebi	rs1057516098
HLI	rs1057516098
Exac	rs1057516098
Gnomad	rs1057516098
Varsome	rs1057516098
LitVar	rs1057516098
Map	rs1057516098
PheGenI	rs1057516098
Biobank	rs1057516098
1000 genomes	rs1057516098
hgdp	rs1057516098
ensembl	rs1057516098
geneview	rs1057516098
scholar	rs1057516098
google	rs1057516098
pharmgkb	rs1057516098
gwascentral	rs1057516098
openSNP	rs1057516098
23andMe	rs1057516098
SNPshot	rs1057516098
SNPdbe	rs1057516098
MSV3d	rs1057516098
GWAS Ctlg	rs1057516098

Max Magnitude

0

ClinVar
Risk	rs1057516098(A;A)
Alt	rs1057516098(A;A)
Reference	Rs1057516098(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 Early infantile epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62071010C>T
CLNSRC
CLNACC	RCV000408671.1, RCV000466204.1,