rs104893935(C;G)
From SNPedia
carrier of a spinal muscular atrophy disease allele |
Is a | genotype |
of | rs104893935 |
Gene | SMN1 |
Chromosome | 5 |
Position | 70,942,416 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 3 | carrier of a spinal muscular atrophy disease allele |
(G;G) | 6 | Spinal muscular atrophy, type 1 or 2 |
see discussion at rs104893935