rs52826764
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs52826764(A;A) |
| Make rs52826764(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 20005780 |
| Gene | MATN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs52826764 |
| dbSNP (classic) | rs52826764 |
| ClinGen | rs52826764 |
| ebi | rs52826764 |
| HLI | rs52826764 |
| Exac | rs52826764 |
| Gnomad | rs52826764 |
| Varsome | rs52826764 |
| LitVar | rs52826764 |
| Map | rs52826764 |
| PheGenI | rs52826764 |
| Biobank | rs52826764 |
| 1000 genomes | rs52826764 |
| hgdp | rs52826764 |
| ensembl | rs52826764 |
| geneview | rs52826764 |
| scholar | rs52826764 |
| rs52826764 | |
| pharmgkb | rs52826764 |
| gwascentral | rs52826764 |
| openSNP | rs52826764 |
| 23andMe | rs52826764 |
| SNPshot | rs52826764 |
| SNPdbe | rs52826764 |
| MSV3d | rs52826764 |
| GWAS Ctlg | rs52826764 |
| Max Magnitude | 0 |
[PMID 28146470
] Rare and low-frequency coding variants alter human adult height.
| ClinVar | |
|---|---|
| Risk | rs52826764(A;A) |
| Alt | rs52826764(A;A) |
| Reference | Rs52826764(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Multiple Epiphyseal Dysplasia |
| Variation | info |
| Gene | MATN3 |
| CLNDBN | not specified Multiple Epiphyseal Dysplasia, Dominant |
| Reversed | 1 |
| HGVS | NC_000002.11:g.20205541C>T |
| CLNSRC | |
| CLNACC | RCV000242199.1, RCV000286603.1, |
