Table 2. SNP ID, nucleotide and Amino Acid changes, number of individuals and population frequency of each mutation.
SNP ID | Nucleotide change | Amino Acid change | Total individuals | N°/ Freq AFR | N°/ Freq AMR | N°/ Freq EAS | N°/Freq EUR | N°/ Freq SAS | Total Allele Frequency |
---|---|---|---|---|---|---|---|---|---|
rs36020563 | G/A | His144His | 1 | 1 (0.0008) | 0 | 0 | 0 | 0 | 0.00019 |
rs113082294 | C/G | Val134Val | 9 | 0 | 2 (0.0029) | 0 | 7 (0.007) | 0 | 0.00179 |
rs111645889 | G/A | Ala130Val | 1 | 1 (0.0008) | 0 | 0 | 0 | 0 | 0.00019 |
rs33971634 | G/A | Gln128 | 1 | 0 | 1 (0.0014) | 0 | 0 | 0 | 0.00019 |
rs33946267 | C/G | Glu122Gln | 3 | 0 | 0 | 0 | 0 | 3 (0.0031) | 0.00059 |
rs33958637 | T/G | Asn109His | 1 | 0 | 0 | 1 (0.001) | 0 | 0 | 0.00019 |
rs193922562 | G/A | Gly108Gly | 1 | 1 (0.0008) | 0 | 0 | 0 | 0 | 0.00019 |
rs145669504 | G/T | Leu82Leu | 5 | 0 | 0 | 5 (0.005) | 0 | 0 | 0.00099 |
rs281864900 | CAAAG/C | Phe42fs | 5 | 0 | 0 | 5 (0.005) | 0 | 0 | 0.00099 |
rs11549407 | G/A | Gln40 | 1 | 0 | 1 (0.0014) | 0 | 0 | 0 | 0.00019 |
rs1135071 | C/A | Arg31Ser | 1 | 0 | 0 | 0 | 1 (0.001) | 0 | 0.00019 |
rs33943001 | C/G | # | 1 | 0 | 0 | 0 | 0 | 1 (0.001) | 0.00019 |
rs33971440 | C/T | # | 1 | 0 | 1 (0.0014) | 0 | 0 | 0 | 0.00019 |
rs35578002 | G/T | Glu30Gly | 1 | 1 (0.0008) | 0 | 0 | 0 | 0 | 0.00019 |
rs33950507 | C/T | Glu27Lys | 14 | 0 | 0 | 8 (0.0079) | 0 | 6 (0.0061) | 0.00279 |
rs33986703 | T/A | Lys18 | 6 | 0 | 0 | 6 (0.006) | 0 | 0 | 0.00119 |
rs63750783 | C/T | Trp16 | 2 | 0 | 0 | 0 | 0 | 2 (0.002) | 0.00039 |
rs334 | T/A | Glu7Val | 137 | 132 (0.0072) | 5 (0.0998) | 0 | 0 | 0 | 0.02735 |
rs33930165 | C/T | Glu7Lys | 17 | 17 (0.0129) | 0 | 0 | 0 | 0 | 0.00339 |
rs33912272 | G/A | Pro6Ser | 1 | 0 | 0 | 0 | 1 (0.001) | 0 | 0.00019 |
AFR: African.; AMR: American; EAS: Eastern Asian; EUR: European; SAS: Southern Asian.