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. 2020 May 13;10(5):298. doi: 10.3390/diagnostics10050298

Table 3.

Comparison of the genotypic and allelic frequencies of variants between the HBOC and control groups by gene.

Gene Variant HBOC Patients Control
Genotype Frequency MAF Genotype Frequency MAF
BCRA 1 rs3092995 C/C C/G G/G G C/C C/G G/G G
82% 0% 18% 18% 76% 8% 16% 20%
rs8176318 C/C C/T T/T T C/C C/T T/T T
84% 10% 6% 11% 90% 10% 0% 5%
rs111791349 G/G G/A A/A A G/G G/A A/A A
68% 12% 20% 26% 76% 18% 6% 15%
rs12516 C/C C/T T/T T C/C C/T T/T T
82% 4% 14% 16% 84% 16% 0% 8%
BCRA 2 rs15869 A/A A/C C/C C A/A A/C C/C C
84% 6% 10% 13% 82% 18% 0% 9%
rs7334543 A/A A/G G/G G A/A A/G G/G G
94% 0% 6% 6% 94% 0% 6% 6%
c.*457 A/A A/C C/C C A/A A/C C/C C
66% 12% 22% 28% 68% 30% 2% 17%
rs11571836 A/A A/G G/G G A/A A/G G/G G
82% 4% 14% 16% 82% 14% 40% 11%
rs75353978 ** TT/TT delTT TT/TT delTT
32% 68% 32% 92% 8% 8%

* MAF = Minor Allele Frequency; ** rs75353978 SNP is a deletion of TT bases, it is indicated like delTT.