rs121918007
A SNP in the ALPL gene on chromosome 1. Its most notable genotype is A;A: hypophosphatasia
- Gene
- ALPL
- Location
- Chr 121,564,139 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
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
- 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
Show notes, about 160 words
rs121918007, also known as c.571G>A, p.Glu191Lys, E191K, p.Glu174Lys and E174K, is a mutation in the ALPL gene on chromosome 1. The rare rs121918007(A) allele is associated with relatively mild (childhood, adult and odonto-) hypophosphatasia.sesep.uvsq.fr This mutation may be the most common hypophosphatasia mutation in Caucasians. Because all E174K mutations are carried by a common ancestral haplotype, it appears to be a relatively ancient ancestral mutation that occurred on a single chromosome in the north of Western Europe, which then spread throughout the rest of Europe and into the New World as a result of human migration. This SNP is referred to as i5012684 by 23andMe.
A;A
Associated with several forms of hypophosphatasia; see discussion and links at rs121918007.
A;G
Since the mode of inheritance is arguable, this genotype can be said to represent carrying one hypophosphatasia mutation, but there may be no clinical symptoms in such carriers.
Source and license
Adapted from rs121918007 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.