|(A;G)||3||carrier of a hypophosphatasia allele|
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.
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.[PMID 12357339]
This SNP is referred to as i5012684 by 23andMe.
|Disease||Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided|
|CLNDBN||Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000014658.27, RCV000014659.25, RCV000014660.26, RCV000207183.1, RCV000224962.1,|