Variant & Polymorphism
SNP
| rs3814113 significantly associated to ovarian cancer |
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AIS highly associated SNPs were all in intron 3 of BNC2 |
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highly conserved region surrounding rs12350739 functions as an enhancer element regulating BNC2 transcription in human melanocytes, while the activity of this enhancer element depends on the allelic status of rs12350739 |
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genetic variations in BNC2 contribute to the acquired amount of facial pigmented spots during aging, through pathways independent of the basal melanin production |
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Rs3814113 is the single-nucleotide polymorphism (SNP) showing the strongest association with high-grade serous ovarian carcinoma |
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