| AMPD1 deficiency heterozygous (orientation reversed) |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
3
|
AMPD1 deficiency homozygous (orientation reversed)
|
| (A;C)
|
2.1
|
unexpected genotype
|
| (A;G)
|
2.8
|
AMPD1 deficiency heterozygous (orientation reversed)
|
| (A;T)
|
3.5
|
Really unexpected!
|
| (C;C)
|
0
|
normal
|
| (C;G)
|
2.1
|
unexpected genotype
|
| (C;T)
|
2.8
|
AMPD1 deficiency heterozygous
|
| (G;G)
|
0
|
normal (orientation reversed)
|
| (G;T)
|
3.4
|
unexpected genotype
|
| (T;T)
|
3
|
AMPD1 deficiency homozygous
|
If orientation is incorrect in your raw data, this would be the pathogenic heterozygous allele. This SNP changed orientation between b36 and b37. See rs17602729(C;T) for the new orientation.
