rs796065024

A SNP in the UNC13D gene on chromosome 17. Its most notable genotype is -;CGCGCTGTGCAG: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation

Gene
UNC13D
Location
Chr 1775,835,418 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;CGCGCTGTGCAGMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant · 3.0
  2. CGCGCTGTGCAG;CGCGCTGTGCAGGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other UNC13D SNPs

All UNC13D SNPs

Notes

From SNPedia

Notes

aka c.1828_1839delCGCGCTGTGCAG (p.Arg610_Gln613del) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

-;CGCGCTGTGCAG

Unaffected in absence of a second UNC13D gene mutation; see links via main rs-page.

Source and license

Adapted from rs796065024 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.