rs28933977
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs28933977(C;T) |
| Make rs28933977(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 131884939 |
| Gene | ENPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933977 |
| dbSNP (classic) | rs28933977 |
| ClinGen | rs28933977 |
| ebi | rs28933977 |
| HLI | rs28933977 |
| Exac | rs28933977 |
| Gnomad | rs28933977 |
| Varsome | rs28933977 |
| LitVar | rs28933977 |
| Map | rs28933977 |
| PheGenI | rs28933977 |
| Biobank | rs28933977 |
| 1000 genomes | rs28933977 |
| hgdp | rs28933977 |
| ensembl | rs28933977 |
| geneview | rs28933977 |
| scholar | rs28933977 |
| rs28933977 | |
| pharmgkb | rs28933977 |
| gwascentral | rs28933977 |
| openSNP | rs28933977 |
| 23andMe | rs28933977 |
| SNPshot | rs28933977 |
| SNPdbe | rs28933977 |
| MSV3d | rs28933977 |
| GWAS Ctlg | rs28933977 |
| GMAF | 0.02433 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs28933977(T;T) |
| Alt | rs28933977(T;T) |
| Reference | Rs28933977(C;C) |
| Significance | Other |
| Disease | Arterial calcification of infancy not specified Hypophosphatemic Rickets |
| Variation | info |
| Gene | ENPP1 |
| CLNDBN | Arterial calcification of infancy not specified Hypophosphatemic Rickets, Recessive |
| Reversed | 0 |
| HGVS | NC_000006.11:g.132206079C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014555.3, RCV000176409.1, RCV000394923.1, |
[PMID 20137773
] Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
