rs1057516099

Orientation

minus

Stabilized

minus

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

Make rs1057516099(A;A)

Make rs1057516099(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439624

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516099
dbSNP (classic)	rs1057516099
ClinGen	rs1057516099
ebi	rs1057516099
HLI	rs1057516099
Exac	rs1057516099
Gnomad	rs1057516099
Varsome	rs1057516099
LitVar	rs1057516099
Map	rs1057516099
PheGenI	rs1057516099
Biobank	rs1057516099
1000 genomes	rs1057516099
hgdp	rs1057516099
ensembl	rs1057516099
geneview	rs1057516099
scholar	rs1057516099
google	rs1057516099
pharmgkb	rs1057516099
gwascentral	rs1057516099
openSNP	rs1057516099
23andMe	rs1057516099
SNPshot	rs1057516099
SNPdbe	rs1057516099
MSV3d	rs1057516099
GWAS Ctlg	rs1057516099

Max Magnitude

0

ClinVar
Risk	rs1057516099(A;A)
Alt	rs1057516099(A;A)
Reference	Rs1057516099(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 Epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62070977C>T
CLNSRC
CLNACC	RCV000408709.1, RCV000416958.1,