rs1057519016

Orientation

minus

Stabilized

minus

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

Make rs1057519016(-;-)

Make rs1057519016(-;CCCCTGCGAGTTT)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63414138

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057519016
dbSNP (classic)	rs1057519016
ClinGen	rs1057519016
ebi	rs1057519016
HLI	rs1057519016
Exac	rs1057519016
Gnomad	rs1057519016
Varsome	rs1057519016
LitVar	rs1057519016
Map	rs1057519016
PheGenI	rs1057519016
Biobank	rs1057519016
1000 genomes	rs1057519016
hgdp	rs1057519016
ensembl	rs1057519016
geneview	rs1057519016
scholar	rs1057519016
google	rs1057519016
pharmgkb	rs1057519016
gwascentral	rs1057519016
openSNP	rs1057519016
23andMe	rs1057519016
SNPshot	rs1057519016
SNPdbe	rs1057519016
MSV3d	rs1057519016
GWAS Ctlg	rs1057519016

Max Magnitude

0

ClinVar
Risk	rs1057519016(-;-)
Alt	rs1057519016(-;-)
Reference	Rs1057519016(CCCCTGCGAGTTT;CCCCTGCGAGTTT)
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.62045491_62045503delAAACTCGCAGGGG
CLNSRC
CLNACC	RCV000020973.1,