rs387906525
A SNP in the ALPL gene on chromosome 1. Its most notable genotype is -;-: hypophosphatasia
- Gene
- ALPL
- Location
- Chr 121,577,632 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (-;-), (-;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other ALPL SNPs
- i5002757A;AhypophosphatasiaVery important
- i5002758T;ThypophosphatasiaVery important
- i5002765C;ChypophosphatasiaVery important
- i5002766A;AhypophosphatasiaVery important
- i5002769C;ChypophosphatasiaVery important
- i5002770T;ThypophosphatasiaVery important
- i5002771C;ChypophosphatasiaVery important
- i5002772C;ChypophosphatasiaVery important
Notes
From SNPedia
Notes
rs387906525, also known as c.1559delT, 1735delT and p.Leu520Argfs, is a mutation in the ALPL gene on chromosome 1. This hypophosphatasia associated mutation has been observed primarily in Japanese. It is considered to be inherited in a recessive manner, leading in homozygous or compound heterozygous form to infantile hypophosphatasia. This SNP is most likely referred to as i5012686 by 23andMe.
-;-
see discussion at rs387906525
-;T
see discussion at rs387906525; Unaffected in absence of a second ALPL gene mutation
Source and license
Adapted from rs387906525 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.