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1 records shown · first 60Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.
PMID 24273577 | PMCID PMC3832808 | DOI 10.5114/aoms.2012.28598 · Archives of medical science : AMS · 2013 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs72656344 | “Seven nsSNPs, namely rs1059454, rs8179178, rs17853657, rs17857117, rs72656340, rs72656344 and rs72656351, were found to be probably damaging with a PSIC score difference between 2.0 and 3.5 by the PolyPhen server.” | 0.90 | hgvs_regex_v1 |
| gene | COL1A1 | “Evaluation and identification of damaged single nucleotide polymorphisms in COL1A1 gene involved in osteoporosis.” | 0.98 | hgnc_dict_v1 |
| variant | rs17853657 | “Four nsSNPs, namely rs17853657, rs17857117, rs57377812 and rs1059454, showed a highly deleterious tolerance index score of 0.00 with a change in their physicochemical properties by the SIFT server.” | 0.90 | hgvs_regex_v1 |
| variant | rs17857117 | “Four nsSNPs, namely rs17853657, rs17857117, rs57377812 and rs1059454, showed a highly deleterious tolerance index score of 0.00 with a change in their physicochemical properties by the SIFT server.” | 0.90 | hgvs_regex_v1 |