rs1107946
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs1107946(A;A) |
| Make rs1107946(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 50203629 |
| Gene | COL1A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1107946 |
| dbSNP (classic) | rs1107946 |
| ClinGen | rs1107946 |
| ebi | rs1107946 |
| HLI | rs1107946 |
| Exac | rs1107946 |
| Gnomad | rs1107946 |
| Varsome | rs1107946 |
| LitVar | rs1107946 |
| Map | rs1107946 |
| PheGenI | rs1107946 |
| Biobank | rs1107946 |
| 1000 genomes | rs1107946 |
| hgdp | rs1107946 |
| ensembl | rs1107946 |
| geneview | rs1107946 |
| scholar | rs1107946 |
| rs1107946 | |
| pharmgkb | rs1107946 |
| gwascentral | rs1107946 |
| openSNP | rs1107946 |
| 23andMe | rs1107946 |
| SNPshot | rs1107946 |
| SNPdbe | rs1107946 |
| MSV3d | rs1107946 |
| GWAS Ctlg | rs1107946 |
| GMAF | 0.2525 |
| Max Magnitude | 0 |
[PMID 22174012
] JAG1 and COL1A1 polymorphisms and haplotypes in relation to bone mineral density variations in postmenopausal Mexican-Mestizo Women
[PMID 22190259] COL1A1 haplotypes and hip fracture
[PMID 15113403] Current limitations of SNP data from the public domain for studies of complex disorders: a test for ten candidate genes for obesity and osteoporosis.
[PMID 15157284] Patterns of linkage disequilibrium and haplotype distribution in disease candidate genes.
[PMID 16804049] Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women.
[PMID 17303000] Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families.
[PMID 17557158] The COL1A1 gene and high myopia susceptibility in Japanese.
[PMID 17697348] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 17903296] Genome-wide association with bone mass and geometry in the Framingham Heart Study.
[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 19016596] A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture.
[PMID 20798928] Polymorphisms in the 5' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies.
[PMID 21269451] Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.
[PMID 22057139] A haplotype derived from the common variants at the -1997G/T and Sp1 binding site of the COL1A1 gene influences risk of postmenopausal osteoporosis in India.
[PMID 22066665] Bone mineral density and genetic markers involved in three connected pathways (focal adhesion, actin cytoskeleton regulation and cell cycle): the CUMAGAS-BMD information system.
| ClinVar | |
|---|---|
| Risk | Rs1107946(C;C) |
| Alt | Rs1107946(C;C) |
| Reference | rs1107946(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.48280990A\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018881.2, |
