rs28940893(C;T)
From SNPedia
Carrier of a metachromatic leukodystrophy mutation |
Is a | genotype |
of | rs28940893 |
Gene | ARSA |
Chromosome | 22 |
Position | 50,625,392 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 3 | Carrier of a metachromatic leukodystrophy mutation |
Unaffected in absence of a second ARSA gene mutation