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. 2021 Apr 29;11:9247. doi: 10.1038/s41598-021-88613-w

Table 1.

Population frequencies of candidate alleles for BC and TNBC-specific risk analyses.

SNP Associated/neighboring gene Chr:position Variant consequence Minor allele ICSBCS Cohort* 1000 Genomes**
AA MAF EA MAF G MAF E MAF Global MAF AFR MAF EUR MAF
rs13000023 TNP1, DIRC3 2:217,924,394 Intron A 0.219 0.268 0.244 0.155 0.150 0.130 0.210
rs2363956 ANKLE1 19:17,394,124 Missense G 0.482 0.510 0.490 0.683 0.460 0.500 0.570
rs2981578 FGFR2 10:123,340,311 Intron T 0.271 0.516 0.364 0.250 0.370 0.080 0.480
rs2981579 FGFR2 10:123,337,335 Intron G 0.398 0.551 0.449 0.440 0.510 0.340 0.550
rs3112572 CASC16, LOC643714 16:52,600,447 Intron A 0.216 0.011 0.246 0.207 0.120 0.270 0.030
rs3745185 BABAM1 19:17,384,267 Intron A 0.191 0.400 0.261 0.369 0.310 0.210 0.480
rs4245739 MDM4 1:204,518,842 3′ UTR C 0.271 0.321 0.252 0.145 0.210 0.230 0.260
rs4849887 LOC84934, GLI2 2:121,245,122 Intergenic C 0.349 0.495 0.329 0.440 0.790 0.700 0.900
rs609275 MYEOV, CCND1 11:69,402,915 Regulatory T 0.491 0.037 0.552 0.085 0.210 0.490 0.000
rs6676002 DARC/ACKR1 1:159,173,144 Upstream T 0.027 0.212 0.000 0.195 0.090 0.010 0.180
rs3027008 DARC/ACKR1 1:159,173,539 Upstream T 0.027 0.212 0.012 0.195 0.090 0.010 0.180
rs3027013 DARC/ACKR1 1:159,174,209 5′ UTR T 0.022 0.087 0.000 0.110 0.030 0.000 0.080
rs71782098 DARC/ACKR1 1:159,174,347 5′ UTR DEL 0.080 0.021 0.103 0.060 0.030 0.100 0.000
rs2814778 DARC/ACKR1 1:159,174,683 5′ UTR C 0.797 0.005 0.971 0.533 0.270 0.960 0.010
rs17838198 DARC/ACKR1 1:159,175,005 Intron T 0.084 0.263 0.005 0.131 0.220 0.010 0.230
rs3027016 DARC/ACKR1 1:159,175,193 Splice/Intron G 0.045 0.163 0.000 0.037 0.060 0.000 0.160
rs12075 DARC/ACKR1 1:159,175,354 Missense G 0.128 0.398 0.012 0.207 0.460 0.020 0.400

*African Americans (AA), European Americans (EA), Ghanaians (G), Ethiopians (E).

*MAF = Minor allele frequency.

**1000 Genomes Allele frequencies obtained from ensemble.