rs117160567
A SNP in the HEXA gene on chromosome 15. Its most notable genotype is A;C: Variant of uncertain significance wrt Tay Sachs
- Gene
- HEXA
- Location
- Chr 1572,351,103 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableNot ratedVariant of uncertain significance wrt Tay Sachs
On SNPedia: (A;A), (A;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs76173977T;TTay-Sachs diseaseVery important
- rs121907952T;TTay-Sachs disease (predicted)Very important
- rs121907953A;ATay-Sachs disease (predicted)Very important
- rs121907954T;TTay-Sachs disease (predicted)Very important
Notes
From SNPedia
Notes
aka c.672+30T>G Although reported in ClinVar as pathogenic for Tay Sachs, the consensus seems to be that this variant is likely to be benign, because it's seen at a higher frequency in general and because minor homozygotes have been observed in large-scale sequencing projects. An additional discussion leaning towards this same conclusion can be found in
A;C
see main rs-page for discussion
Source and license
Adapted from rs117160567 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.