rs1057516104

Orientation

minus

Stabilized

minus

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

Make rs1057516104(A;G)

Make rs1057516104(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63433905

Gene	KCNQ2, LOC105372721

is a	snp
is	mentioned by
dbSNP	rs1057516104
dbSNP (classic)	rs1057516104
ClinGen	rs1057516104
ebi	rs1057516104
HLI	rs1057516104
Exac	rs1057516104
Gnomad	rs1057516104
Varsome	rs1057516104
LitVar	rs1057516104
Map	rs1057516104
PheGenI	rs1057516104
Biobank	rs1057516104
1000 genomes	rs1057516104
hgdp	rs1057516104
ensembl	rs1057516104
geneview	rs1057516104
scholar	rs1057516104
google	rs1057516104
pharmgkb	rs1057516104
gwascentral	rs1057516104
openSNP	rs1057516104
23andMe	rs1057516104
SNPshot	rs1057516104
SNPdbe	rs1057516104
MSV3d	rs1057516104
GWAS Ctlg	rs1057516104

Max Magnitude

0

ClinVar
Risk	rs1057516104(G;G)
Alt	rs1057516104(G;G)
Reference	Rs1057516104(A;A)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7
Reversed	1
HGVS	NC_000020.10:g.62065258T>C
CLNSRC
CLNACC	RCV000408718.1,