rs104893931(A;T)
From SNPedia
| carrier of a spinal muscular atrophy disease allele |
| Is a | genotype |
| of | rs104893931 |
| Gene | SMN1 |
| Chromosome | 5 |
| Position | 70,938,888 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| 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 |
see discussion at rs104893931
