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Rs11327935

We Have Automation & MRO Parts In Stock And Ready To Ship. Call Or Request A Quote Now! New, Used, And Refurbished MRO & Automation Parts For Sale At Discounted Prices. Call Now Compare Pricing, Inventory and Datasheets for Millions of In-Stock Parts rs11327935. Current Build 154. Released April 21, 2020 feedback. Organism Homo sapiens Position chr17:50203295-50203302 (GRCh38.p12) Help. The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for. rs11327935. [ 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

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The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional rs11327935: Chromosome: 17: Position: 48280656: Weight of evidence: 0: Genotype Frequency We don't have enough users yet. Allele Frequency We don't have enough users yet. Additional Information. SNPedia (0) PLoS (0) Mendeley (0) Personal Genome Project (0) Genome.gov (0) Other users (1).

Methods: A total of 320 otosclerotic and 320 control samples were screened for four SNPs (rs1107946, rs11327935, rs2269336, and rs1800012) of the COL1A1 gene; rs3178250 of the BMP2 gene; and rs17563 of the BMP4 gene using single-strand conformation polymorphism analysis, and restriction fragment length polymorphism analyses. Genotypic. rs11327935 NM_000088. 3 (COL1A1): c.-2116T= rs1107946 NM_000088. 3 (COL1A1): c. 104-441= rs1800012 The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype (T-delT-T) of these three SNPs was found to be greatly overrepresented in fractured individuals compared with nonfractured.

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Significant associations were found with the rs11327935 SNP in American, German, and Tunisian population, whereas the rs2269336 SNP only showed an association in American and German populations. COL1A1 encodes the major component of type I collagen found in most connective tissues, including cartilage Summary of all sequence variants in the COL1A1 database, sorted by type of variant (with graphical displays and statistics) The Reading-frame checker generates a prediction of the effect of whole-exon changes. Listing of all unique sequence variants in the COL1A1 database, without patient data

In a case-control study of 206 Caucasians with otosclerosis (see 166800) and 282 Caucasian controls, Chen et al. (2007) identified 2 haplotypes, composed of 5 SNPs in the COL1A1 gene (rs1800012, rs9898186, rs2269336, rs11327935, and rs1107946), that were significantly associated with otosclerosis. In osteoblast cell lines, the protective H2. Fragility fractures resulting from low‐trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture rs1107946 and 1663indelT, rs11327935) and one in intron 1 (þ1245G/T, rs1800012) have previously been associated with BMD at both the genotype(6,7) and haplotype levels.(8,9) More recently, a rare haplotype bearing the minor allele of all three SNPs ( 1997T/ 1663delT/þ1245T) has been associated with Association of COL1A1 and TGFB1 Polymorphisms with Otosclerosis in a Tunisian Population. Annals of Human Genetics, 2011. Ayda Khalfalla

We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases.. the rs11327935 SNP in American, German, and Tunisian. population, whereas the rs2269336 SNP only showed an as-sociation in American and German populations (Khalfallah. et al., 2011). When the. The BARCOS controls had been previously genotyped as follows: polymorphisms rs1107946 and rs1800012 by SNaPshot; rs11327935 by standard sequencing. 9. Genotyping quality control. In the two cases groups, >5% of the samples were regenotyped for the three polymorphisms and positive and negative control samples were always included in the genotyping This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical.

rs11327935 RefSNP Report - dbSNP - NCB

Fragility fractures resulting from low-trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gen Summary Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in.. Fragility fractures resulting from low‐trauma events such as a fall from standing height are associated with osteoporosis and are very common in older people, especially women. Three single nucleotide polymorphisms (SNPs) at the COL1A1 gene (rs1107946, rs11327935, and rs1800012) have been widely studied and previously associated with bone mineral density (BMD) and fracture. A rare haplotype. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific

rs11327935 - SNPedi

Genetic studies of osteoporosis have focused on analysing single polymorphisms in individual genes - with inconclusive results. An alternative approach may involve haplotypes and gene-gene interactions. The aim of the study was to test the association between the COL1A1, ESR1, VDR and TGFB1 polymorphisms or haplotypes and bone mineral density (BMD) in Spanish postmenopausal women rs11327935 [51] rs2075555: no data: rs1800012 [52] rs2075555: no data * r 2 between the 100K SNP and a corresponding published SNP (column to the left) p-values < 0.005 are shown in bold. Go to: Discussion. To our knowledge, this is the first genome-wide association study of many of the most commonly measured osteoporosis-related phenotypes.. rs11327935, rs2269336, and rs1800012) of the COL1A1 gene; rs3178250 of the BMP2 gene; and rs17563 of the BMP4 gene using single-strand conformation polymorphism analysis, and restriction fragment length poly-morphism analyses. Genotypic, haplotypic, and linkage disequilibrium analyses were performed to assess th Also, there was a single 100K SNP in the COL1A1 gene (rs2075555) that was associated with femoral neck width in women and shaft width in men; however, there were no data at the HapMap website regarding LD with the three other SNPs in this gene reported by other osteoporosis research groups (rs1107946, rs11327935, rs1800012)

Submissions for variant NM_000088

COL1A1 association and otosclerosis: A meta-analysis

COL1A1 Haplotypes and Hip Fractur

COL1A1 haplotypes and hip fracture, Journal of Bone and

  1. Association of COL1A1 and TGFB1 polymorphisms with
  2. COL1A1, ESR1, VDR and TGFB1 polymorphisms and haplotypes
  3. Genome-wide association with bone mass and geometry in the
  4. Roser Urreizti - Academia
  5. Proefschrift Bittermann by Nicole Nijhuis - Issu
  6. DAVID: Database for Annotation, Visualization, and
  7. EO

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