rs121907982

A SNP in the HEXB gene on chromosome 5. Its most notable genotype is A;C: Carrier of a Sandhoff disease mutation

Gene
HEXB
Location
Chr 574,718,921 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;CMost notableBadCarrier of a Sandhoff disease mutationImportant · 3.0

On SNPedia: (A;A), (A;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other HEXB SNPs

All HEXB SNPs

Notes

From SNPedia

Notes

aka c.1367A>C, p.Tyr456Ser or Y456S

A;C

Presumably unaffected in absence of a second HEXB gene mutation; see links via main rs-page.

Source and license

Adapted from rs121907982 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.