rs1057516117

Orientation

minus

Stabilized

minus

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

Make rs1057516117(-;-)

Make rs1057516117(-;TC)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63415009

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516117
dbSNP (classic)	rs1057516117
ClinGen	rs1057516117
ebi	rs1057516117
HLI	rs1057516117
Exac	rs1057516117
Gnomad	rs1057516117
Varsome	rs1057516117
LitVar	rs1057516117
Map	rs1057516117
PheGenI	rs1057516117
Biobank	rs1057516117
1000 genomes	rs1057516117
hgdp	rs1057516117
ensembl	rs1057516117
geneview	rs1057516117
scholar	rs1057516117
google	rs1057516117
pharmgkb	rs1057516117
gwascentral	rs1057516117
openSNP	rs1057516117
23andMe	rs1057516117
SNPshot	rs1057516117
SNPdbe	rs1057516117
MSV3d	rs1057516117
GWAS Ctlg	rs1057516117

Max Magnitude

0

ClinVar
Risk	rs1057516117(-;-)
Alt	rs1057516117(-;-)
Reference	Rs1057516117(TC;TC)
Significance	Pathogenic
Disease	Benign familial neonatal seizures 1
Variation	info
Gene	KCNQ2
CLNDBN	Benign familial neonatal seizures 1
Reversed	1
HGVS	NC_000020.10:g.62046362_62046363delGA
CLNSRC
CLNACC	RCV000408661.1,