rs121918007
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | hypophosphatasia |
| (A;G) | 3 | carrier of a hypophosphatasia allele |
| (G;G) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 21564139 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918007 |
| dbSNP (classic) | rs121918007 |
| ClinGen | rs121918007 |
| ebi | rs121918007 |
| HLI | rs121918007 |
| Exac | rs121918007 |
| Gnomad | rs121918007 |
| Varsome | rs121918007 |
| LitVar | rs121918007 |
| Map | rs121918007 |
| PheGenI | rs121918007 |
| Biobank | rs121918007 |
| 1000 genomes | rs121918007 |
| hgdp | rs121918007 |
| ensembl | rs121918007 |
| geneview | rs121918007 |
| scholar | rs121918007 |
| rs121918007 | |
| pharmgkb | rs121918007 |
| gwascentral | rs121918007 |
| openSNP | rs121918007 |
| 23andMe | rs121918007 |
| SNPshot | rs121918007 |
| SNPdbe | rs121918007 |
| MSV3d | rs121918007 |
| GWAS Ctlg | rs121918007 |
| GMAF | 0.001377 |
| Max Magnitude | 4 |
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.[1]
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.
| ClinVar | |
|---|---|
| Risk | Rs121918007(A;A) |
| Alt | Rs121918007(A;A) |
| Reference | Rs121918007(G;G) |
| Significance | Other |
| Disease | Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Infantile hypophosphatasia Childhood hypophosphatasia Adult hypophosphatasia Hypophosphatasia not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21890632G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014658.28, RCV000014659.25, RCV000014660.27, RCV000207183.1, RCV000224962.1, |
