Table 1.
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.