rs104894497

A SNP in the RAB27A gene on chromosome 15. Its most notable genotype is C;G: Hemophagocytic Lymphohistiocytosis (possible; see discussion)

Gene
RAB27A
Location
Chr 1555,228,693 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;GMost notableBadHemophagocytic Lymphohistiocytosis (possible; see discussion)Very important · 5.0
  2. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs104894497 on the minus strand: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other RAB27A SNPs

All RAB27A SNPs

Notes

From SNPedia

Notes

aka c.259G>C (p.Ala87Pro) Reported in ClinVar as potentially pathogenic for Griscelli syndrome, while a 2016 publication finds heterozygotes associated with familial hemophagocytic lymphohistiocytosis. 23andMe name: i5003825

C;G

Mutation may (or may not) act dominantly; see references via main rs-page.

Source and license

Adapted from rs104894497 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.