rs1060499592

Orientation

minus

Stabilized

minus

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

Make rs1060499592(A;A)

Make rs1060499592(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

49374407

Gene	KCNB1, LOC105372649

is a	snp
is	mentioned by
dbSNP	rs1060499592
dbSNP (classic)	rs1060499592
ClinGen	rs1060499592
ebi	rs1060499592
HLI	rs1060499592
Exac	rs1060499592
Gnomad	rs1060499592
Varsome	rs1060499592
LitVar	rs1060499592
Map	rs1060499592
PheGenI	rs1060499592
Biobank	rs1060499592
1000 genomes	rs1060499592
hgdp	rs1060499592
ensembl	rs1060499592
geneview	rs1060499592
scholar	rs1060499592
google	rs1060499592
pharmgkb	rs1060499592
gwascentral	rs1060499592
openSNP	rs1060499592
23andMe	rs1060499592
SNPshot	rs1060499592
SNPdbe	rs1060499592
MSV3d	rs1060499592
GWAS Ctlg	rs1060499592

Max Magnitude

0

ClinVar
Risk	rs1060499592(A;A)
Alt	rs1060499592(A;A)
Reference	Rs1060499592(C;C)
Significance	Probable-Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	KCNB1
CLNDBN	Epileptic encephalopathy, early infantile, 26
Reversed	1
HGVS	NC_000020.10:g.47990944G>T
CLNSRC
CLNACC	RCV000477903.1,