rs587777848
From SNPedia
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 |
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, |