rs63750315
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs63750315(C;C) |
| Make rs63750315(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 6469444 |
| Gene | PLEKHG5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750315 |
| dbSNP (classic) | rs63750315 |
| ClinGen | rs63750315 |
| ebi | rs63750315 |
| HLI | rs63750315 |
| Exac | rs63750315 |
| Gnomad | rs63750315 |
| Varsome | rs63750315 |
| LitVar | rs63750315 |
| Map | rs63750315 |
| PheGenI | rs63750315 |
| Biobank | rs63750315 |
| 1000 genomes | rs63750315 |
| hgdp | rs63750315 |
| ensembl | rs63750315 |
| geneview | rs63750315 |
| scholar | rs63750315 |
| rs63750315 | |
| pharmgkb | rs63750315 |
| gwascentral | rs63750315 |
| openSNP | rs63750315 |
| 23andMe | rs63750315 |
| SNPshot | rs63750315 |
| SNPdbe | rs63750315 |
| MSV3d | rs63750315 |
| GWAS Ctlg | rs63750315 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63750315(C;C) |
| Alt | rs63750315(C;C) |
| Reference | Rs63750315(T;T) |
| Significance | Pathogenic |
| Disease | Distal spinal muscular atrophy |
| Variation | info |
| Gene | PLEKHG5 |
| CLNDBN | Distal spinal muscular atrophy, autosomal recessive 4 |
| Reversed | 1 |
| HGVS | NC_000001.10:g.6529504A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001074.3, |
[PMID 17564964
] The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
