rs120074118(-;CGC)
From SNPedia
| Carrier of a Niemann-Pick disease type A mutation |
| Is a | genotype |
| of | rs120074118 |
| Gene | SMPD1 |
| Chromosome | 11 |
| Position | 6,394,539 |
| Merged from | Rs794727780 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;CGC) | 3 | Carrier of a Niemann-Pick disease type A mutation |
| (CGC;CGC) | 0 | common in clinvar |
| (GCC;GCC) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
Unaffected in absence of a second SMPD1 gene mutation; see text and links via main rs-page.
