| 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
|
rs121907954, also known as c.805G>A, p.Gly269Ser and G269S, represents a variant in the HEXA gene on chromosome 15. Note that rs121907954 can also represent c.805G>C, p.Gly269Arg or G269R, which is also a variant in the HEXA gene.
The rs121907954(A) allele is one of three most common mutations associated (when inherited recessively) with Tay-Sachs disease among Ashkenazi Jews. The rs121907954(C) allele, in dbSNP orientation, is also considered a pathogenic Tay-Sachs disease mutation according to ClinVar.
23andMe name for the the c.805G>A variant: i4000436
[PMID 27120077
] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.
] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.
