rs2242420
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2242420(C;T) |
| Make rs2242420(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 21578036 |
| Gene | ALPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2242420 |
| dbSNP (classic) | rs2242420 |
| ClinGen | rs2242420 |
| ebi | rs2242420 |
| HLI | rs2242420 |
| Exac | rs2242420 |
| Gnomad | rs2242420 |
| Varsome | rs2242420 |
| LitVar | rs2242420 |
| Map | rs2242420 |
| PheGenI | rs2242420 |
| Biobank | rs2242420 |
| 1000 genomes | rs2242420 |
| hgdp | rs2242420 |
| ensembl | rs2242420 |
| geneview | rs2242420 |
| scholar | rs2242420 |
| rs2242420 | |
| pharmgkb | rs2242420 |
| gwascentral | rs2242420 |
| openSNP | rs2242420 |
| 23andMe | rs2242420 |
| SNPshot | rs2242420 |
| SNPdbe | rs2242420 |
| MSV3d | rs2242420 |
| GWAS Ctlg | rs2242420 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20139978] |
| Trait | Hematological and biochemical traits |
| Title | Genome-wide association study of hematological and biochemical traits in a Japanese population. |
| Risk Allele | T |
| P-val | 5E-13 |
| Odds Ratio | .16 [0.12-0.21] unit increase |
| ClinVar | |
|---|---|
| Risk | rs2242420(T;T) |
| Alt | rs2242420(T;T) |
| Reference | Rs2242420(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Hypophosphatasia |
| Variation | info |
| Gene | ALPL |
| CLNDBN | Hypophosphatasia |
| Reversed | 0 |
| HGVS | NC_000001.10:g.21904529C>T |
| CLNSRC | |
| CLNACC | RCV000342056.1, |
