i5012683

A SNP. Its most notable genotype is T;T: hypophosphatasia

Gene
None listed
Highest magnitude
4.0Very important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodnormalTypical · 0.0
  2. A;TBadcarrier of a hypophosphatasia alleleImportant · 3.0
  3. T;TMost notableBadhypophosphatasiaVery important · 4.0

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

i5012683, also known as c.1133A>T or p.D378V, is a SNP in the ALPL gene on chromosome 1. Based on the ALPL gene mutations database, the rare/minor allele is considered pathogenic for the infantile form of hypophosphatasia.

Source and license

Adapted from i5012683 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.