rs1057516119

Orientation

minus

Stabilized

minus

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

Make rs1057516119(A;T)

Make rs1057516119(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63414110

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516119
dbSNP (classic)	rs1057516119
ClinGen	rs1057516119
ebi	rs1057516119
HLI	rs1057516119
Exac	rs1057516119
Gnomad	rs1057516119
Varsome	rs1057516119
LitVar	rs1057516119
Map	rs1057516119
PheGenI	rs1057516119
Biobank	rs1057516119
1000 genomes	rs1057516119
hgdp	rs1057516119
ensembl	rs1057516119
geneview	rs1057516119
scholar	rs1057516119
google	rs1057516119
pharmgkb	rs1057516119
gwascentral	rs1057516119
openSNP	rs1057516119
23andMe	rs1057516119
SNPshot	rs1057516119
SNPdbe	rs1057516119
MSV3d	rs1057516119
GWAS Ctlg	rs1057516119

Max Magnitude

0

ClinVar
Risk	rs1057516119(T;T)
Alt	rs1057516119(T;T)
Reference	Rs1057516119(A;A)
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.62045463T>A
CLNSRC
CLNACC	RCV000408700.1,