rs121434354
A SNP in the UNC13D gene on chromosome 17. Its most notable genotype is A;C: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- Gene
- UNC13D
- Location
- Chr 1775,831,153 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- A;CMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- A;AGoodcommon in clinvar
SNPedia records rs121434354 on the minus strand: (G;T), (T;T). 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
- 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
- rs764196809-;CTCCCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
Notes
From SNPedia
Notes
aka c.2570T>G (p.Phe857Cys) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar 23andMe name: i5006288
A;C
Unaffected in absence of a second UNC13D gene mutation; see links via main rs-page.
Source and license
Adapted from rs121434354 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.