rs1057516088

Orientation

minus

Stabilized

minus

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

Make rs1057516088(A;A)

Make rs1057516088(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444706

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516088
dbSNP (classic)	rs1057516088
ClinGen	rs1057516088
ebi	rs1057516088
HLI	rs1057516088
Exac	rs1057516088
Gnomad	rs1057516088
Varsome	rs1057516088
LitVar	rs1057516088
Map	rs1057516088
PheGenI	rs1057516088
Biobank	rs1057516088
1000 genomes	rs1057516088
hgdp	rs1057516088
ensembl	rs1057516088
geneview	rs1057516088
scholar	rs1057516088
google	rs1057516088
pharmgkb	rs1057516088
gwascentral	rs1057516088
openSNP	rs1057516088
23andMe	rs1057516088
SNPshot	rs1057516088
SNPdbe	rs1057516088
MSV3d	rs1057516088
GWAS Ctlg	rs1057516088

Max Magnitude

0

ClinVar
Risk	rs1057516088(A;A)
Alt	rs1057516088(A;A)
Reference	Rs1057516088(G;G)
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.62076059C>T
CLNSRC
CLNACC	RCV000408667.1,