rs1057519536

Orientation

minus

Stabilized

minus

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

Make rs1057519536(A;A)

Make rs1057519536(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63442424

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057519536
dbSNP (classic)	rs1057519536
ClinGen	rs1057519536
ebi	rs1057519536
HLI	rs1057519536
Exac	rs1057519536
Gnomad	rs1057519536
Varsome	rs1057519536
LitVar	rs1057519536
Map	rs1057519536
PheGenI	rs1057519536
Biobank	rs1057519536
1000 genomes	rs1057519536
hgdp	rs1057519536
ensembl	rs1057519536
geneview	rs1057519536
scholar	rs1057519536
google	rs1057519536
pharmgkb	rs1057519536
gwascentral	rs1057519536
openSNP	rs1057519536
23andMe	rs1057519536
SNPshot	rs1057519536
SNPdbe	rs1057519536
MSV3d	rs1057519536
GWAS Ctlg	rs1057519536

Max Magnitude

0

ClinVar
Risk	rs1057519536(A;A)
Alt	rs1057519536(A;A)
Reference	Rs1057519536(T;T)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	KCNQ2
CLNDBN	Epileptic encephalopathy
Reversed	1
HGVS	NC_000020.10:g.62073777A>T
CLNSRC
CLNACC	RCV000416952.1,