rs386134173
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs386134173(-;-) |
| Make rs386134173(-;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201767266 |
| Gene | ALS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386134173 |
| dbSNP (classic) | rs386134173 |
| ClinGen | rs386134173 |
| ebi | rs386134173 |
| HLI | rs386134173 |
| Exac | rs386134173 |
| Gnomad | rs386134173 |
| Varsome | rs386134173 |
| LitVar | rs386134173 |
| Map | rs386134173 |
| PheGenI | rs386134173 |
| Biobank | rs386134173 |
| 1000 genomes | rs386134173 |
| hgdp | rs386134173 |
| ensembl | rs386134173 |
| geneview | rs386134173 |
| scholar | rs386134173 |
| rs386134173 | |
| pharmgkb | rs386134173 |
| gwascentral | rs386134173 |
| openSNP | rs386134173 |
| 23andMe | rs386134173 |
| SNPshot | rs386134173 |
| SNPdbe | rs386134173 |
| MSV3d | rs386134173 |
| GWAS Ctlg | rs386134173 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386134173(-;-) |
| Alt | rs386134173(-;-) |
| Reference | Rs386134173(A;A) |
| Significance | Pathogenic |
| Disease | Amyotrophic lateral sclerosis type 2 |
| Variation | info |
| Gene | ALS2 |
| CLNDBN | Amyotrophic lateral sclerosis type 2 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.202631989delT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004655.5, |
[PMID 11586297] The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
[PMID 11586298] A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
