| immunodeficiency, but not for 23andMe users |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
1
|
immunodeficiency, but not for 23andMe users
|
| (T;T)
|
0
|
common in clinvar
|
For 23andMe users, this is the normal form, you can safely ignore it. However when oriented to current versions of dbSNP, this is a very rare genotype and linked to immunodeficiency
This rare homozygous genotype has been reported to be the basis of primary immunodeficiency-20 in several publications. However, due to the orientation issues (and confusion) connected to A/T ambiguous flips and the assignment of this SNP to the reverse strand in dbSNP in at least some versions of dbSNP, be aware that this may be a false assignment if you see it in your Promethease report and it should be independently checked/verified.
