If from Ancestry, this is a miscall and you are normal for this SNP; if from another company, please contact us. |
Geno
|
Mag
|
Summary
|
(A;A)
|
8.8
|
Tay-Sachs disease (predicted)
|
(A;G)
|
3
|
Carrier for a Tay-Sachs mutation
|
(C;C)
|
2
|
If from Ancestry, this is a miscall and you are normal for this SNP; if from another company, please contact us.
|
(C;G)
|
3
|
Carrier of a Tay-Sachs mutation
|
(G;G)
|
0
|
common in clinvar
|
This genotype should be extremely rare, representing a Tay-Sachs disease genotype (with two copies of an extremely rare mutation), but it is very commonly reported incorrectly in Ancestry raw data files and is therefore almost 100% certain to be a miscall if seen in your report (and, in reality, you have the completely common, normal genotype for this SNP).