rs387906309

A SNP in the HEXA gene on chromosome 15. Its most notable genotype is TATC;TATC: Tay-Sachs disease (predicted)

Gene
HEXA
Location
Chr 1572,346,579 (GRCh38)
Highest magnitude
8.8Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;TATCBadCarrier for a Tay-Sachs mutationImportant · 3.0
  3. TATC;TATCMost notableBadTay-Sachs disease (predicted)Very important · 8.8

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

Conditions, medicines and genes

Other HEXA SNPs

All HEXA SNPs

Notes

From SNPedia

Notes

rs387906309, also known as c.1274_1277dupTATC or p.Tyr427Ilefs, is a rare variant in the HEXA gene on chromosome 15. The rs387906309(TATC) variant, when inherited recessively, is considered pathogenic for Tay-Sachs disease. This mutation is considered a founder mutation in several populations, including in Ashkenazi Jews. 23andMe name: i4000391

-;TATC

Unaffected in absence of a second HEXA gene mutation; see discussion at rs387906309 and at Tay-Sachs disease

TATC;TATC

see discussion at rs387906309 and at Tay-Sachs disease

Source and license

Adapted from rs387906309 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.