rs483352901

A SNP in the STX11 gene on chromosome 6. Its most notable genotype is AGTGGCGC;TGG: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation

Gene
STX11
Location
Chr 6144,186,996 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. AGTGGCGC;AGTGGCGCGoodcommon in clinvarTypical · 0.0
  2. AGTGGCGC;TGGMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant · 3.0

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

Conditions, medicines and genes

Other STX11 SNPs

All STX11 SNPs

Notes

From SNPedia

Notes

aka c.369_376delAGTGGCGCinsTGG (p.Val124Glyfs) considered pathogenic for familial hemophagocytic lymphohistiocytosis (HLH) in ClinVar

AGTGGCGC;TGG

Unaffected in absence of a second STX11 gene mutation; see links via main rs-page.

Source and license

Adapted from rs483352901 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.