rs104893931
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;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 | 70938888 |
| Gene | SMN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104893931 |
| dbSNP (classic) | rs104893931 |
| ClinGen | rs104893931 |
| ebi | rs104893931 |
| HLI | rs104893931 |
| Exac | rs104893931 |
| Gnomad | rs104893931 |
| Varsome | rs104893931 |
| LitVar | rs104893931 |
| Map | rs104893931 |
| PheGenI | rs104893931 |
| Biobank | rs104893931 |
| 1000 genomes | rs104893931 |
| hgdp | rs104893931 |
| ensembl | rs104893931 |
| geneview | rs104893931 |
| scholar | rs104893931 |
| rs104893931 | |
| pharmgkb | rs104893931 |
| gwascentral | rs104893931 |
| openSNP | rs104893931 |
| 23andMe | rs104893931 |
| SNPshot | rs104893931 |
| SNPdbe | rs104893931 |
| MSV3d | rs104893931 |
| GWAS Ctlg | rs104893931 |
| Max Magnitude | 6 |
rs104893931, also known as c.131A>T, p.Asp44Val and D44V, is a mutation in the SMN1 gene on chromosome 5.
The rare rs104893931(T) allele is a mutation associated with the recessively inherited type 3 spinal muscular atrophy.
This SNP is referred to as i5005735 by 23andMe.
| ClinVar | |
|---|---|
| Risk | Rs104893931(T;T) |
| Alt | Rs104893931(T;T) |
| Reference | Rs104893931(A;A) |
| Significance | Pathogenic |
| Disease | Kugelberg-Welander disease |
| Variation | info |
| Gene | SMN1 |
| CLNDBN | Kugelberg-Welander disease |
| Reversed | 0 |
| HGVS | NC_000005.9:g.70234715A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009745.5, |
