rs121918540
A SNP in the STXBP2 gene on chromosome 19. Its most notable genotype is C;T: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- Gene
- STXBP2
- Location
- Chr 197,646,322 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other STXBP2 SNPs
- rs61736587A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs121918541C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs140148806C;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs773360200A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs2303116C;Ccommon in clinvarTypical
Notes
From SNPedia
Notes
aka c.1430C>T (p.Pro477Leu) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar
C;T
Unaffected in absence of a second STXBP2 gene mutation; see links via main rs-page.
Source and license
Adapted from rs121918540 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.