rs1057516085

Orientation

minus

Stabilized

minus

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

Make rs1057516085(A;A)

Make rs1057516085(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

63444747

Gene

KCNQ2

is a	snp
is	mentioned by
dbSNP	rs1057516085
dbSNP (classic)	rs1057516085
ClinGen	rs1057516085
ebi	rs1057516085
HLI	rs1057516085
Exac	rs1057516085
Gnomad	rs1057516085
Varsome	rs1057516085
LitVar	rs1057516085
Map	rs1057516085
PheGenI	rs1057516085
Biobank	rs1057516085
1000 genomes	rs1057516085
hgdp	rs1057516085
ensembl	rs1057516085
geneview	rs1057516085
scholar	rs1057516085
google	rs1057516085
pharmgkb	rs1057516085
gwascentral	rs1057516085
openSNP	rs1057516085
23andMe	rs1057516085
SNPshot	rs1057516085
SNPdbe	rs1057516085
MSV3d	rs1057516085
GWAS Ctlg	rs1057516085

Max Magnitude

0

ClinVar
Risk	rs1057516085(A;A)
Alt	rs1057516085(A;A)
Reference	Rs1057516085(G;G)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 7 Severe intellectual deficiency
Variation	info
Gene	KCNQ2
CLNDBN	Early infantile epileptic encephalopathy 7 Severe intellectual deficiency
Reversed	1
HGVS	NC_000020.10:g.62076100C>T
CLNSRC
CLNACC	RCV000408699.1, RCV000415385.1,