rs587776537
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AAG;AAG) | 0 | common in clinvar |
Make rs587776537(-;-) |
Make rs587776537(-;AAG) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 132346304 |
Gene | SETX |
is a | snp |
is | mentioned by |
dbSNP | rs587776537 |
dbSNP (classic) | rs587776537 |
ClinGen | rs587776537 |
ebi | rs587776537 |
HLI | rs587776537 |
Exac | rs587776537 |
Gnomad | rs587776537 |
Varsome | rs587776537 |
LitVar | rs587776537 |
Map | rs587776537 |
PheGenI | rs587776537 |
Biobank | rs587776537 |
1000 genomes | rs587776537 |
hgdp | rs587776537 |
ensembl | rs587776537 |
geneview | rs587776537 |
scholar | rs587776537 |
rs587776537 | |
pharmgkb | rs587776537 |
gwascentral | rs587776537 |
openSNP | rs587776537 |
23andMe | rs587776537 |
SNPshot | rs587776537 |
SNPdbe | rs587776537 |
MSV3d | rs587776537 |
GWAS Ctlg | rs587776537 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776537(-;-) |
Alt | rs587776537(-;-) |
Reference | Rs587776537(AAG;AAG) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia autosomal recessive 1 |
Variation | info |
Gene | SETX |
CLNDBN | Spinocerebellar ataxia autosomal recessive 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.135221691_135221693delAAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002387.4, |