rs1057519535

Orientation

minus

Stabilized

minus

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

Make rs1057519535(G;T)

Make rs1057519535(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63439652

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057519535
dbSNP (classic)	rs1057519535
ClinGen	rs1057519535
ebi	rs1057519535
HLI	rs1057519535
Exac	rs1057519535
Gnomad	rs1057519535
Varsome	rs1057519535
LitVar	rs1057519535
Map	rs1057519535
PheGenI	rs1057519535
Biobank	rs1057519535
1000 genomes	rs1057519535
hgdp	rs1057519535
ensembl	rs1057519535
geneview	rs1057519535
scholar	rs1057519535
google	rs1057519535
pharmgkb	rs1057519535
gwascentral	rs1057519535
openSNP	rs1057519535
23andMe	rs1057519535
SNPshot	rs1057519535
SNPdbe	rs1057519535
MSV3d	rs1057519535
GWAS Ctlg	rs1057519535

Max Magnitude

0

ClinVar
Risk	rs1057519535(T;T)
Alt	rs1057519535(T;T)
Reference	Rs1057519535(G;G)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62071005C>A
CLNSRC
CLNACC	RCV000417017.1,