rs75660264
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | carrier of a spinal muscular atrophy disease allele |
| (T;T) | 6 | Spinal muscular atrophy, type 3 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 70946127 |
| Gene | SMN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75660264 |
| dbSNP (classic) | rs75660264 |
| ClinGen | rs75660264 |
| ebi | rs75660264 |
| HLI | rs75660264 |
| Exac | rs75660264 |
| Gnomad | rs75660264 |
| Varsome | rs75660264 |
| LitVar | rs75660264 |
| Map | rs75660264 |
| PheGenI | rs75660264 |
| Biobank | rs75660264 |
| 1000 genomes | rs75660264 |
| hgdp | rs75660264 |
| ensembl | rs75660264 |
| geneview | rs75660264 |
| scholar | rs75660264 |
| rs75660264 | |
| pharmgkb | rs75660264 |
| gwascentral | rs75660264 |
| openSNP | rs75660264 |
| 23andMe | rs75660264 |
| SNPshot | rs75660264 |
| SNPdbe | rs75660264 |
| MSV3d | rs75660264 |
| GWAS Ctlg | rs75660264 |
| Merged from | Rs104893926 |
| Max Magnitude | 6 |
rs75660264, also known as c.785G>T, p.Ser262Ile and S262I, is a mutation in the SMN1 gene on chromosome 5.
The rare rs75660264(T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.
This SNP is referred to as i5005728 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs75660264(T;T) |
| Alt | Rs75660264(T;T) |
| Reference | Rs75660264(G;G) |
| Significance | Pathogenic |
| Disease | Kugelberg-Welander disease |
| Variation | info |
| Gene | SMN1 |
| CLNDBN | Kugelberg-Welander disease |
| Reversed | 0 |
| HGVS | NC_000005.9:g.70241954G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009736.3, |
