Table 2. Genetic variation observed in the COLEC10 gene.
Variation | dbSNP | Region | Amino acid change | AA | Aa | aa | MAF |
---|---|---|---|---|---|---|---|
−996C>T | rs117863403 | Promoter | - | 93 (96.9%) | 3 (3.1%) | 0 | 0.016 |
−796delT | ss991382312 | Promoter | - | 95 (99%) | 1 (1%) | 0 | 0.005 |
−743C>T | ss991382313 | Promoter | - | 95 (99%) | 1 (1%) | 0 | 0.005 |
−742G>A | rs3812490 | Promoter | - | 94 (98%) | 2 (2%) | 0 | 0.010 |
−663C>G | rs1485297 | Promoter | - | 81(84.4%) | 14 (14.6%) | 1 (1%) | 0.083 |
−315G>C | rs1485298 | Promoter | - | 62 (64.6%) | 28 (29.2%) | 6 (6.3%) | 0.208 |
−277T>C | rs2450048 | Promoter | - | 56 (58.3%) | 33 (34.4%) | 7 (7.3%) | 0.245 |
−161_−157 delAAAAT | rs148350292 | Promoter | - | 95 (99%) | 1 (1%) | 0 | 0.005 |
−150C>T | rs3829048 | Promoter | - | 93 (96.9%) | 3 (3.1%) | 0 | 0.016 |
−145G>A | ss991382317 | Promoter | - | 95 (99%) | 1 (1%) | 0 | 0.005 |
−7C>T | ss749616235 | 5′ UTR | - | 299 (99.7%) | 1 (0.3%) | 0 | 0.005 |
+228A>G | rs2465383 | Intron 1 | - | 26 (26%) | 55 (55%) | 19 (19%) | 0.465 |
+22418A>G | rs16891987 | Exon 2 | - | 97 (97%) | 3 (3%) | 0 | 0.015 |
+22547T>C | rs149290883 | Intron 2 | - | 99 (99%) | 1 (1%) | 0 | 0.005 |
+23881A>C | rs150828850 | Exon 3 | Glu78Asp | 298 (99.3%) | 2 (0.7%) | 0 | 0.005 |
+23998A>T | rs4512407 | Intron 3 | - | 97 (97%) | 3 (3%) | 0 | 0.015 |
+36545C>T | rs149331285 | Exon 5 | Arg125Trp | 296 (98.7%) | 4 (1.3%) | 0 | 0.005 |
+38501C>A | rs11987106 | Intron 5 | - | 97 (97%) | 3 (3%) | 0 | 0.015 |
+39097A>G | rs1064556 | 3′ UTR | - | 97 (97%) | 3 (3%) | 0 | 0.015 |
+39391C>G | rs1064557 | 3′ downstream | - | 97 (97%) | 3 (3%) | 0 | 0.015 |
The base position refers to the location of the polymorphism considering the A from the translation start site ATG as +1, and the adjacent 5′ base as -1. All variations adhered to the Hardy-Weinberg equilibrium. ‘AA’, individuals homozygote for the major allele; ‘Aa’, heterozygous individuals; ‘aa’, individuals homozygous for the minor allele; MAF, minor allele frequency.