rs202219507
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs202219507(A;A) |
| Make rs202219507(A;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 2 |
| Position | 201733377 |
| Gene | ALS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202219507 |
| dbSNP (classic) | rs202219507 |
| ClinGen | rs202219507 |
| ebi | rs202219507 |
| HLI | rs202219507 |
| Exac | rs202219507 |
| Gnomad | rs202219507 |
| Varsome | rs202219507 |
| LitVar | rs202219507 |
| Map | rs202219507 |
| PheGenI | rs202219507 |
| Biobank | rs202219507 |
| 1000 genomes | rs202219507 |
| hgdp | rs202219507 |
| ensembl | rs202219507 |
| geneview | rs202219507 |
| scholar | rs202219507 |
| rs202219507 | |
| pharmgkb | rs202219507 |
| gwascentral | rs202219507 |
| openSNP | rs202219507 |
| 23andMe | rs202219507 |
| SNPshot | rs202219507 |
| SNPdbe | rs202219507 |
| MSV3d | rs202219507 |
| GWAS Ctlg | rs202219507 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202219507(A;A) |
| Alt | rs202219507(A;A) |
| Reference | Rs202219507(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Amyotrophic Lateral Sclerosis ALS2-Related Spectrum Disorders Peripheral axonal neuropathy |
| Variation | info |
| Gene | ALS2 |
| CLNDBN | Amyotrophic Lateral Sclerosis, Recessive ALS2-Related Spectrum Disorders Peripheral axonal neuropathy |
| Reversed | 0 |
| HGVS | NC_000002.11:g.202598100T>A |
| CLNSRC | |
| CLNACC | RCV000328276.1, RCV000382737.1, RCV000414980.1, |
