rs764196809
A SNP in the UNC13D gene on chromosome 17. Its most notable genotype is -;CTCC: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- Gene
- UNC13D
- Location
- Chr 1775,834,093 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CTCCMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- CTCC;CTCCGoodcommon in clinvar
- I;IGoodcommon genotype
On SNPedia: (-;CTCC), (CTCC;CTCC), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other UNC13D SNPs
- rs121434352A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs121434353A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs121434354A;CCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs201908137A;CCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs202020396A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs747169857A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs754621494C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs754882266C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
Notes
From SNPedia
Notes
aka c.2346_2349delGGAG (p.Arg782Serfs) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
-;CTCC
Unaffected in absence of a second UNC13D gene mutation; see links via main rs-page.
Source and license
Adapted from rs764196809 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.