rs587784476
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587784476(-;-) |
Make rs587784476(-;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 17 |
Position | 75523684 |
Gene | LLGL2, LOC107985023, TSEN54 |
is a | snp |
is | mentioned by |
dbSNP | rs587784476 |
dbSNP (classic) | rs587784476 |
ClinGen | rs587784476 |
ebi | rs587784476 |
HLI | rs587784476 |
Exac | rs587784476 |
Gnomad | rs587784476 |
Varsome | rs587784476 |
LitVar | rs587784476 |
Map | rs587784476 |
PheGenI | rs587784476 |
Biobank | rs587784476 |
1000 genomes | rs587784476 |
hgdp | rs587784476 |
ensembl | rs587784476 |
geneview | rs587784476 |
scholar | rs587784476 |
rs587784476 | |
pharmgkb | rs587784476 |
gwascentral | rs587784476 |
openSNP | rs587784476 |
23andMe | rs587784476 |
SNPshot | rs587784476 |
SNPdbe | rs587784476 |
MSV3d | rs587784476 |
GWAS Ctlg | rs587784476 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587784476(-;-) |
Alt | rs587784476(-;-) |
Reference | Rs587784476(C;C) |
Significance | Pathogenic |
Disease | Olivopontocerebellar hypoplasia |
Variation | info |
Gene | TSEN54 |
CLNDBN | Olivopontocerebellar hypoplasia |
Reversed | 0 |
HGVS | NC_000017.10:g.73519765delC |
CLNSRC | |
CLNACC | RCV000147773.1, |