rs11327935
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| Make rs11327935(-;-) |
| Make rs11327935(-;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50203295 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11327935 |
| dbSNP (classic) | rs11327935 |
| ClinGen | rs11327935 |
| ebi | rs11327935 |
| HLI | rs11327935 |
| Exac | rs11327935 |
| Gnomad | rs11327935 |
| Varsome | rs11327935 |
| LitVar | rs11327935 |
| Map | rs11327935 |
| PheGenI | rs11327935 |
| Biobank | rs11327935 |
| 1000 genomes | rs11327935 |
| hgdp | rs11327935 |
| ensembl | rs11327935 |
| geneview | rs11327935 |
| scholar | rs11327935 |
| rs11327935 | |
| pharmgkb | rs11327935 |
| gwascentral | rs11327935 |
| openSNP | rs11327935 |
| 23andMe | rs11327935 |
| SNPshot | rs11327935 |
| SNPdbe | rs11327935 |
| MSV3d | rs11327935 |
| GWAS Ctlg | rs11327935 |
| GMAF | 0.1446 |
| Max Magnitude | 0 |
[PMID 22190259] COL1A1 haplotypes and hip fracture
[PMID 17903296
] Genome-wide association with bone mass and geometry in the Framingham Heart Study.
[PMID 21777208] Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.
| ClinVar | |
|---|---|
| Risk | rs11327935(-;-) |
| Alt | rs11327935(-;-) |
| Reference | Rs11327935(A;A) |
| Significance | Other |
| Disease | Bone mineral density variation quantitative trait locus |
| Variation | info |
| Gene | COL1A1 |
| CLNDBN | Bone mineral density variation quantitative trait locus |
| Reversed | 0 |
| HGVS | NC_000017.10:g.48280656delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018883.2, |
