Table 3.
Allele frequency for the SNPs of BLC6 gene at positions that interact with BI-3802 and DB11611.
| Study | Population | Group | Sample size | Ref allele | Alt allele | |
|---|---|---|---|---|---|---|
| ARG24CYS | ExAC | Global | Study-wide | 121,412 | G = 0.999992 | A = 0.000008 |
| ExAC | Europe | Sub | 73,354 | G = 1.00000 | A = 0.00000 | |
| ExAC | Asian | Sub | 25,166 | G = 0.99996 | A = 0.00004 | |
| ExAC | American | Sub | 11,578 | G = 1.00000 | A = 0.00000 | |
| ExAC | African | Sub | 10,406 | G = 1.00000 | A = 0.00000 | |
| ExAC | Other | Sub | 908 | G = 1.000 | A = 0.000 | |
| gnomAD–Exomes | Global | Study-wide | 251,472 | G = 0.999996 | A = 0.000004 | |
| gnomAD–Exomes | European | Sub | 135,398 | G = 1.000000 | A = 0.000000 | |
| gnomAD–Exomes | Asian | Sub | 49,010 | G = 0.99998 | A = 0.00002 | |
| gnomAD–Exomes | American | Sub | 34,590 | G = 1.00000 | A = 0.00000 | |
| gnomAD–Exomes | African | Sub | 16,256 | G = 1.00000 | A = 0.00000 | |
| gnomAD–Exomes | Ashkenazi Jewish | Sub | 10,078 | G = 1.00000 | A = 0.00000 | |
| ARG24HIS | The avon longitudinal study of parents and children | PARENT AND CHILD COHORT | Study-wide | 3854 | C = 0.9997 | T = 0.0003 |
| UK 10 K study–Twins | TWIN COHORT | Study-wide | 3708 | C = 1.0000 | T = 0.0000 | |
| PHE89LEU | – | Total | Global | 14,050 | A = 1.00000 | G = 0.00000 |
| European | Sub | 9690 | A = 1.0000 | G = 0.0000 | ||
| African | Sub | 2898 | A = 1.0000 | G = 0.0000 | ||
| African Others | Sub | 114 | A = 1.000 | G = 0.000 | ||
| African American | Sub | 2784 | A = 1.0000 | G = 0.0000 | ||
| Asian | Sub | 112 | A = 1.000 | G = 0.000 | ||
| East Asian | Sub | 86 | A = 1.00 | G = 0.00 | ||
| Other Asian | Sub | 26 | A = 1.00 | G = 0.00 | ||
| Latin American 1 | Sub | 146 | A = 1.000 | G = 0.000 | ||
| Latin American 2 | Sub | 610 | A = 1.000 | G = 0.000 | ||
| South Asian | Sub | 98 | A = 1.00 | G = 0.00 | ||
| Other | Sub | 496 | A = 1.000 | G = 0.000 | ||
| GLN113LYS | ExAC | Global | Study-wide | 121,220 | G = 0.999992 | T = 0.000008 |
| ExAC | Europe | Sub | 73,234 | G = 0.99999 | T = 0.00001 | |
| ExAC | Asian | Sub | 25,146 | G = 1.00000 | T = 0.00000 | |
| ExAC | American | Sub | 11,560 | G = 1.00000 | T = 0.00000 | |
| ExAC | African | Sub | 10,376 | G = 1.00000 | T = 0.00000 | |
| ExAC | Other | Sub | 904 | G = 1.000 | T = 0.000 | |
| gnomAD–Exomes | Global | Study-wide | 251,340 | G = 0.999996 | T = 0.000004 | |
| gnomAD–Exomes | European | Sub | 135,266 | G = 0.999993 | T = 0.000007 | |
| gnomAD–Exomes | Asian | Sub | 49,008 | G = 1.00000 | T = 0.00000 | |
| gnomAD–Exomes | American | Sub | 34,592 | G = 1.00000 | T = 0.00000 | |
| gnomAD–Exomes | African | Sub | 16,256 | G = 1.00000 | T = 0.00000 | |
| gnomAD–Exomes | Ashkenazi Jewish | Sub | 10,078 | G = 1.00000 | T = 0.00000 | |
| gnomAD–Exomes | Other | Sub | 6140 | G = 1.0000 | T = 0.0000 | |
| GLN113HIS | – | Total | Global | 10,680 | C = 1.00000 | G = 0.00000 |
| European | Sub | 6962 | C = 1.0000 | G = 0.0000 | ||
| African | Sub | 2294 | C = 1.0000 | G = 0.0000 | ||
| African Others | Sub | 84 | C = 1.00 | G = 0.00 | ||
| African American | Sub | 2210 | C = 1.0000 | G = 0.0000 | ||
| Asian | Sub | 108 | C = 1.000 | G = 0.000 | ||
| East Asian | Sub | 84 | C = 1.00 | G = 0.00 | ||
| Other Asian | Sub | 24 | C = 1.00 | G = 0.00 | ||
| Latin American 1 | Sub | 146 | C = 1.000 | G = 0.000 | ||
| Latin American 2 | Sub | 610 | C = 1.000 | G = 0.000 | ||
| South Asian | Sub | 94 | C = 1.00 | G = 0.00 | ||
| Other | Sub | 466 | C = 1.000 | G = 0.000 | ||
| GLU115GLN | – | Total | Global | 10,680 | C = 1.00000 | G = 0.00000 |
| European | Sub | 6962 | C = 1.0000 | G = 0.0000 | ||
| African | Sub | 2294 | C = 1.0000 | G = 0.0000 | ||
| African Others | Sub | 84 | C = 1.00 | G = 0.00 | ||
| African American | Sub | 2210 | C = 1.0000 | G = 0.0000 | ||
| Asian | Sub | 108 | C = 1.000 | G = 0.000 | ||
| East Asian | Sub | 84 | C = 1.00 | G = 0.00 | ||
| Other Asian | Sub | 24 | C = 1.00 | G = 0.00 | ||
| Latin American 1 | Sub | 146 | C = 1.000 | G = 0.000 | ||
| Latin American 2 | Sub | 610 | C = 1.000 | G = 0.000 | ||
| South Asian | Sub | 94 | C = 1.00 | G = 0.00 | ||
| Other | Sub | 466 | C = 1.000 | G = 0.000 | ||
| HIS116ARG | gnomAD–Exomes | Global | Study-wide | 251,318 | T = 0.999996 | C = 0.000004 |
| gnomAD–Exomes | European | Sub | 135,252 | T = 1.000000 | C = 0.000000 | |
| gnomAD–Exomes | Asian | Sub | 49,006 | T = 1.00000 | C = 0.00000 | |
| gnomAD–Exomes | American | Sub | 34,590 | T = 0.99997 | C = 0.00003 | |
| gnomAD–Exomes | African | Sub | 16,254 | T = 1.00000 | C = 0.00000 | |
| gnomAD–Exomes | Ashkenazi Jewish | Sub | 10,078 | T = 1.00000 | C = 0.00000 | |
| gnomAD–Exomes | Other | Sub | 6138 | T = 1.0000 | C = 0.0000 | |
| VAL117PHE | – | Total | Global | 660 | C = 1.000 | A = 0.000 |
| European | Sub | 78 | C = 1.00 | A = 0.00 | ||
| African | Sub | 434 | C = 1.000 | A = 0.000 | ||
| African Others | Sub | 0 | C = 0 | A = 0 | ||
| African American | Sub | 434 | C = 1.000 | A = 0.000 | ||
| Asian | Sub | 34 | C = 1.00 | A = 0.00 | ||
| East Asian | Sub | 34 | C = 1.00 | A = 0.00 | ||
| Other Asian | Sub | 0 | C = 0 | A = 0 | ||
| Latin American 1 | Sub | 0 | C = 0 | A = 0 | ||
| Latin American 2 | Sub | 0 | C = 0 | A = 0 | ||
| South Asian | Sub | 6 | C = 1.0 | A = 0.0 | ||
| Other | Sub | 108 | C = 1.000 | A = 0.000 |