rs104893930(A;G)
From SNPedia
carrier of a spinal muscular atrophy disease allele |
Is a | genotype |
of | rs104893930 |
Gene | SMN1 |
Chromosome | 5 |
Position | 70,938,845 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 6 | Spinal muscular atrophy, type 2 |
(A;G) | 3 | carrier of a spinal muscular atrophy disease allele |
(G;G) | 0 | common in clinvar |
see discussion at rs104893930