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1 records shown · first 60Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.
PMID 23056176 | PMCID PMC3467277 | DOI 10.1371/journal.pone.0043939 · PloS one · 2012 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs4986841 | “Among the predicted nsSNPs, rs4986841, rs111367604, rs13389423 and rs139785364 were identified as deleterious and damaging by the SIFT and PolyPhen programs.” | 0.90 | hgvs_regex_v1 |
| gene | BARD1 | “Identification of functional SNPs in BARD1 gene and in silico analysis of damaging SNPs: based on data procured from dbSNP database.” | 0.98 | hgnc_dict_v1 |
| variant | rs58253676 | “FastSNP revealed that the rs58253676 SNP in the 3' UTR may have splicing regulator and enhancer functions.” | 0.90 | hgvs_regex_v1 |
| variant | rs17489363 | “In the 5' UTR, rs17489363 and rs17426219 may alter the transcriptional binding site.” | 0.90 | hgvs_regex_v1 |