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. 2015 Feb 24;10(2):e0114883. doi: 10.1371/journal.pone.0114883

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.