rs751247865
A SNP in the PRF1 gene on chromosome 10. Its most notable genotype is G;T: Carrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
- Gene
- PRF1
- Location
- Chr 1070,599,055 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- G;TMost notableBadCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutation
On SNPedia: (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PRF1 SNPs
- rs28933375C;CFamilial Hemophagocytic Lymphohistiocytosis and LymphomaVery important
- rs28933374A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs28933376A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs28933973A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs104894176C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs104894180A;GCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs104894181C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
- rs104894182C;TCarrier of a hemophagocytic lymphohistiocytosis (HLH) mutationImportant
Notes
From SNPedia
Notes
c.666C>A (p.His222Gln)
G;T
Unaffected in absence of a second PRF1 gene mutation; see links via main rs-page.
Source and license
Adapted from rs751247865 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.