rs587777848

Orientation

plus

Stabilized

plus

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

Make rs587777848(G;T)

Make rs587777848(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

49374519

Gene	KCNB1, LOC105372649

is a	snp
is	mentioned by
dbSNP	rs587777848
dbSNP (classic)	rs587777848
ClinGen	rs587777848
ebi	rs587777848
HLI	rs587777848
Exac	rs587777848
Gnomad	rs587777848
Varsome	rs587777848
LitVar	rs587777848
Map	rs587777848
PheGenI	rs587777848
Biobank	rs587777848
1000 genomes	rs587777848
hgdp	rs587777848
ensembl	rs587777848
geneview	rs587777848
scholar	rs587777848
google	rs587777848
pharmgkb	rs587777848
gwascentral	rs587777848
openSNP	rs587777848
23andMe	rs587777848
SNPshot	rs587777848
SNPdbe	rs587777848
MSV3d	rs587777848
GWAS Ctlg	rs587777848

Max Magnitude

0

ClinVar
Risk	rs587777848(T;T)
Alt	rs587777848(T;T)
Reference	Rs587777848(G;G)
Significance	Pathogenic
Disease	Epileptic encephalopathy
Variation	info
Gene	KCNB1
CLNDBN	Epileptic encephalopathy, early infantile, 26
Reversed	0
HGVS	NC_000020.10:g.47991056G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144689.4,