rs3200254
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs3200254(C;C) |
| Make rs3200254(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 21568242 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3200254 |
| dbSNP (classic) | rs3200254 |
| ClinGen | rs3200254 |
| ebi | rs3200254 |
| HLI | rs3200254 |
| Exac | rs3200254 |
| Gnomad | rs3200254 |
| Varsome | rs3200254 |
| LitVar | rs3200254 |
| Map | rs3200254 |
| PheGenI | rs3200254 |
| Biobank | rs3200254 |
| 1000 genomes | rs3200254 |
| hgdp | rs3200254 |
| ensembl | rs3200254 |
| geneview | rs3200254 |
| scholar | rs3200254 |
| rs3200254 | |
| pharmgkb | rs3200254 |
| gwascentral | rs3200254 |
| openSNP | rs3200254 |
| 23andMe | rs3200254 |
| SNPshot | rs3200254 |
| SNPdbe | rs3200254 |
| MSV3d | rs3200254 |
| GWAS Ctlg | rs3200254 |
| Merged from | Rs3738099 |
| GMAF | 0.2787 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 17195227] Association of a TNAP haplotype with ankylosing spondylitis.
[PMID 18769922] No significant association between genetic polymorphisms in the TNAP gene and ankylosing spondylitis in the Chinese Han population.
[PMID 19500388
] Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
| ClinVar | |
|---|---|
| Risk | rs3200254(C;C) |
| Alt | rs3200254(C;C) |
| Reference | Rs3200254(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | not specified Hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21894735T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000179760.2, RCV000207155.2, |
