rs121918001
A SNP in the ALPL gene on chromosome 1. Its most notable genotype is A;A: hypophosphatasia
- Gene
- ALPL
- Location
- Chr 121,561,126 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadhypophosphatasia
- A;CBadcarrier of a hypophosphatasia allele
- C;CGoodnormal
- C;TBadcarrier of a hypophosphatasia allele
- T;TBadhypophosphatasia
On SNPedia: (A;A), (A;C), (C;C), (C;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
rs121918001, also known as c.211C>A or p.R71S, 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 childhood form of hypophosphatasia. rs121918001, also known as c.211C>T or p.R71C, 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. This SNP is referred to as i5002774 by 23andMe.
C;T
Unaffected in absence of a second ALPL gene mutation
Source and license
Adapted from rs121918001 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.