i5002757
A SNP in the ALPL gene on chromosome 1. Its most notable genotype is A;A: hypophosphatasia
- Gene
- ALPL
- Location
- Chr 121,890,596 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadhypophosphatasia
- A;GBadcarrier of a hypophosphatasia allele
- G;GGoodnormal
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ALPL SNPs
- i5002758T;ThypophosphatasiaVery important
- i5002765C;ChypophosphatasiaVery important
- i5002766A;AhypophosphatasiaVery important
- i5002769C;ChypophosphatasiaVery important
- i5002770T;ThypophosphatasiaVery important
- i5002771C;ChypophosphatasiaVery important
- i5002772C;ChypophosphatasiaVery important
- i5002773C;ChypophosphatasiaVery important
Notes
From SNPedia
Notes
i5002757, also known as c.535G>A or p.A179T, 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 perinatal form of hypophosphatasia.
Source and license
Adapted from i5002757 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.