rs1057516112

Orientation

minus

Stabilized

minus

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

Make rs1057516112(A;G)

Make rs1057516112(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433806

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516112
dbSNP (classic)	rs1057516112
ClinGen	rs1057516112
ebi	rs1057516112
HLI	rs1057516112
Exac	rs1057516112
Gnomad	rs1057516112
Varsome	rs1057516112
LitVar	rs1057516112
Map	rs1057516112
PheGenI	rs1057516112
Biobank	rs1057516112
1000 genomes	rs1057516112
hgdp	rs1057516112
ensembl	rs1057516112
geneview	rs1057516112
scholar	rs1057516112
google	rs1057516112
pharmgkb	rs1057516112
gwascentral	rs1057516112
openSNP	rs1057516112
23andMe	rs1057516112
SNPshot	rs1057516112
SNPdbe	rs1057516112
MSV3d	rs1057516112
GWAS Ctlg	rs1057516112

Max Magnitude

0

ClinVar
Risk	rs1057516112(G;G)
Alt	rs1057516112(G;G)
Reference	Rs1057516112(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.62065159T>C
CLNSRC
CLNACC	RCV000408674.1,