rs139428292(A;A)

Reported as thrombocytopenia-absent radius syndrome mutation, but that seems unlikely

Magnitude
5.0Very important
Repute
Bad
On SNPedia
rs139428292(A;A)
Gene
LOC105371260

Other genotypes of rs139428292

  1. A;GBadCarrier of a mutation for thrombocytopenia-absent radius syndromeImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

All about rs139428292

Notes

From SNPedia

See rs139428292; the frequency with which Promethease users are reported to be (A;A) seems both high and yet roughly in accordance with population predictions, but since TAR syndrome is quite rare, this genotype seems to either be unrelated or at least to have very low penetrance. If you have this genotype, and have any symptoms associated with thrombocytopenia-absent radius syndrome, please email us (info@snpedia.com).

Source and license

Adapted from rs139428292(A;A) 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.