rs1057516115

Orientation

minus

Stabilized

minus

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

Make rs1057516115(A;A)

Make rs1057516115(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63424176

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516115
dbSNP (classic)	rs1057516115
ClinGen	rs1057516115
ebi	rs1057516115
HLI	rs1057516115
Exac	rs1057516115
Gnomad	rs1057516115
Varsome	rs1057516115
LitVar	rs1057516115
Map	rs1057516115
PheGenI	rs1057516115
Biobank	rs1057516115
1000 genomes	rs1057516115
hgdp	rs1057516115
ensembl	rs1057516115
geneview	rs1057516115
scholar	rs1057516115
google	rs1057516115
pharmgkb	rs1057516115
gwascentral	rs1057516115
openSNP	rs1057516115
23andMe	rs1057516115
SNPshot	rs1057516115
SNPdbe	rs1057516115
MSV3d	rs1057516115
GWAS Ctlg	rs1057516115

Max Magnitude

0

ClinVar
Risk	rs1057516115(A;A)
Alt	rs1057516115(A;A)
Reference	Rs1057516115(G;G)
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.62055529C>T
CLNSRC
CLNACC	RCV000408685.1,