rs146249964

A SNP in the MPL gene on chromosome 1. Its most notable genotype is A;T: Carrier of a congenital amegakaryocytic thrombocytopenia mutation

Gene
MPL
Location
Chr 143,337,929 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;TMost notableBadCarrier of a congenital amegakaryocytic thrombocytopenia mutationImportant · 3.0
  2. T;TGoodcommon in clinvarTypical · 0.0

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

Other MPL SNPs

All MPL SNPs

Notes

From SNPedia

Notes

aka c.79+2T>A This variant in the thrombopoietin receptor-encoding gene, MPL, was reported in 2011 to be a founder mutation the Ashkenazi Jewish (AJ) population for CAMT (congenital amegakaryocytic thrombocytopenia), and the carrier frequency was estimated to be 1 in 75.

A;T

Unaffected in absence of a second MPL gene mutation

Source and license

Adapted from rs146249964 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.