rs2075559
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2075559(C;G) |
| Make rs2075559(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50189930 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2075559 |
| dbSNP (classic) | rs2075559 |
| ClinGen | rs2075559 |
| ebi | rs2075559 |
| HLI | rs2075559 |
| Exac | rs2075559 |
| Gnomad | rs2075559 |
| Varsome | rs2075559 |
| LitVar | rs2075559 |
| Map | rs2075559 |
| PheGenI | rs2075559 |
| Biobank | rs2075559 |
| 1000 genomes | rs2075559 |
| hgdp | rs2075559 |
| ensembl | rs2075559 |
| geneview | rs2075559 |
| scholar | rs2075559 |
| rs2075559 | |
| pharmgkb | rs2075559 |
| gwascentral | rs2075559 |
| openSNP | rs2075559 |
| 23andMe | rs2075559 |
| SNPshot | rs2075559 |
| SNPdbe | rs2075559 |
| MSV3d | rs2075559 |
| GWAS Ctlg | rs2075559 |
| GMAF | 0.4669 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24072491] COL1A1 polymorphism is associated with risks of osteosarcoma susceptibility and death
| ClinVar | |
|---|---|
| Risk | rs2075559(A;A) rs2075559(G;G) |
| Alt | rs2075559(A;A) rs2075559(G;G) |
| Reference | Rs2075559(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000017.10:g.48267291G>C |
| CLNSRC | |
| CLNACC | RCV000250190.3, |
