rs1057516090

Orientation

minus

Stabilized

minus

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

Make rs1057516090(A;A)

Make rs1057516090(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444699

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516090
dbSNP (classic)	rs1057516090
ClinGen	rs1057516090
ebi	rs1057516090
HLI	rs1057516090
Exac	rs1057516090
Gnomad	rs1057516090
Varsome	rs1057516090
LitVar	rs1057516090
Map	rs1057516090
PheGenI	rs1057516090
Biobank	rs1057516090
1000 genomes	rs1057516090
hgdp	rs1057516090
ensembl	rs1057516090
geneview	rs1057516090
scholar	rs1057516090
google	rs1057516090
pharmgkb	rs1057516090
gwascentral	rs1057516090
openSNP	rs1057516090
23andMe	rs1057516090
SNPshot	rs1057516090
SNPdbe	rs1057516090
MSV3d	rs1057516090
GWAS Ctlg	rs1057516090

Max Magnitude

0

ClinVar
Risk	rs1057516090(A;A)
Alt	rs1057516090(A;A)
Reference	Rs1057516090(C;C)
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.62076052G>T
CLNSRC
CLNACC	RCV000408746.1,