rs730882209
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730882209(-;G) |
Make rs730882209(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 9 |
Position | 132326375 |
Gene | SETX |
is a | snp |
is | mentioned by |
dbSNP | rs730882209 |
dbSNP (classic) | rs730882209 |
ClinGen | rs730882209 |
ebi | rs730882209 |
HLI | rs730882209 |
Exac | rs730882209 |
Gnomad | rs730882209 |
Varsome | rs730882209 |
LitVar | rs730882209 |
Map | rs730882209 |
PheGenI | rs730882209 |
Biobank | rs730882209 |
1000 genomes | rs730882209 |
hgdp | rs730882209 |
ensembl | rs730882209 |
geneview | rs730882209 |
scholar | rs730882209 |
rs730882209 | |
pharmgkb | rs730882209 |
gwascentral | rs730882209 |
openSNP | rs730882209 |
23andMe | rs730882209 |
SNPshot | rs730882209 |
SNPdbe | rs730882209 |
MSV3d | rs730882209 |
GWAS Ctlg | rs730882209 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730882209(G;G) |
Alt | rs730882209(G;G) |
Reference | Rs730882209(-;-) |
Significance | Probable-Pathogenic |
Disease | Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech |
Variation | info |
Gene | SETX |
CLNDBN | Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech |
Reversed | 1 |
HGVS | NC_000009.11:g.135201763dupC |
CLNSRC | King Faisal Specialist Hospital and Research Center |
CLNACC | RCV000162115.1, |