rs76173977
A SNP in the HEXA gene on chromosome 15. Its most notable genotype is T;T: Tay-Sachs disease
- Gene
- HEXA
- Location
- Chr 1572,348,047 (GRCh38)
- Highest magnitude
- 8.8Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other HEXA SNPs
- rs28941770T;TTay-Sachs disease (predicted)Very important
- rs28941771G;GTay-Sachs disease (predicted)Very important
- rs28942071A;ATay-Sachs disease (predicted)Very important
- rs28942072T;TTay-Sachs disease (predicted)Very important
- rs121907952T;TTay-Sachs disease (predicted)Very important
- rs121907953A;ATay-Sachs disease (predicted)Very important
- rs121907954T;TTay-Sachs disease (predicted)Very important
- rs121907955T;TTay-Sachs disease (predicted)Very important
Notes
From SNPedia
Notes
rs76173977 is a mutation in the 9th intron (IVS9) of the HEXA gene, and it has been reported as one of the more common mutations seen in non-Jewish Caucasians which can lead to Tay-Sachs disease when present in two copies or when combined with another Tay-Sachs mutation. The best write-up of this mutation is found in OMIM. aka c.1073+1G>A Note that 23andMe refers to this SNP as i4000438.
C;T
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.
T;T
Tay-Sachs disease, based on having two copies of a Tay-Sachs disease allele.
Source and license
Adapted from rs76173977 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.