Rs2075555
| Orientation | minus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2075555 |
| PheGenI | rs2075555 |
| nextbio | rs2075555 |
| hapmap | rs2075555 |
| 1000 genomes | rs2075555 |
| hgdp | rs2075555 |
| ensembl | rs2075555 |
| gopubmed | rs2075555 |
| geneview | rs2075555 |
| scholar | rs2075555 |
| rs2075555 | |
| pharmgkb | rs2075555 |
| gwascentral | rs2075555 |
| openSNP | rs2075555 |
| 23andMe | rs2075555 |
| 23andMe all | rs2075555 |
| SNP Nexus | |
| SNPshot | rs2075555 |
| SNPdbe | rs2075555 |
| MSV3d | rs2075555 |
| Gene | COL1A1 |
| Chromosome | 17 |
| Orientation | minus |
| GMAF | 0.2454 |
| Position | 48274291 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude |
| Make rs2075555(A;A) |
| Make rs2075555(A;C) |
| Make rs2075555(C;C) |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
| GWAS | |
|---|---|
| SNP | rs2075555 |
| PubMedID | [PMID 17903305] |
| Condition | Breast cancer |
| Gene | COL1A1 |
| Risk Allele | |
| pValue | 8.00E-008 |
| OR | NA |
| 95% CI | |
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
[PMID 22022476] Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation
10.1371/journal.pone.0025940 Associated with Accelerated Bone Mineral Density Loss after Hematopoietic Cell Transplantation
[PMID 22219633] An association study of the COL1A1 gene and high myopia in a Han Chinese population
[PMID 17557158] The COL1A1 gene and high myopia susceptibility in Japanese.
[PMID 17903296] Genome-wide association with bone mass and geometry in the Framingham Heart Study.
[PMID 18836165] Absence of association between COL1A1 polymorphisms and high myopia in the Japanese population.
[PMID 19180518] Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
[PMID 19260140] Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
| GET Evidence | |
|---|---|
| rs2075555 | |
| aa_change | |
| aa_change_short | |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.722222 |
| summary | |
