Table 3.
SNP ID | Position on Chr 13 | Left Flank. Right Flank | Major Allele | Minor Allele | MAF | Type | Reference AA | Variable AA | Protein Position | Reference Codon | Codon Position | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | rs1034104 | 109203128 | TGGATGCACG.ACAAATGTTT | G | C | 0.129 | 3′UTR | |||||
2 | rs9587979 | 109203242 | TTTCTTCTTT.TATTCTTGAT | G | A | 0.011 | 3′-UTR | |||||
3 | rs41275080 | 109204832 | ATACCACCCA.TGATGCCTAT | T | C | 0.015 | 3′-UTR | |||||
4 | 10467453_203 | 109205580 | TTTTTCTTTT.GTTTTTTTTG | T | G | 0.252 | 3′-UTR | |||||
5 | 10467453_204 | 109205581 | TTTTCTTTTT.TTTTTTTTGT | G | T | 0.025 | 3′-UTR | |||||
6 | rs1044364 | 109205647 | AATACGTTTT.TAAAAATCAA | T | C | 0.096 | 3′-UTR | |||||
7 | rs2289047 | 109205816 | ACATCTACAT.GAGAAGATTA | C | A | 0.46 | 3′-UTR | |||||
8 | rs2289046 | 109205907 | CCCAATACAG.TGATTTTCAA | T | C | 0.366 | 3′-UTR | |||||
9 | rs7320328 | 109206094 | TGGACCATTT.AATAAGGCCG | C | A | 0.015 | 3′-UTR | |||||
10 | rs1865434 | 109206609 | TTTAATGATA.TCTCTGACAT | T | C | 0.083 | 3′-UTR | |||||
11 | rs9515119 | 109207337 | TCAAACTTTC.TATGTTCCAG | A | C | 0.448 | intron | |||||
12 | rs754204 | 109209569 | CACGGTAAAG.GAGAACTGTG | G | A | 0.399 | intron | |||||
13 | rs913949 | 109209797 | GGAAAAGGCT.GAGCACACCT | A | G | 0.211 | intron | |||||
14 | rs12584136 | 109217355 | AGACATTTTC.AATGCTCATG | C | A | 0.094 | intron | |||||
15 | rs9559646 | 109217405 | CCCAGATCTG.GAAATGCTTT | G | A | 0.351 | intron | |||||
16 | rs9521509 | 109219452 | CTCAATGGTA.CTCAGCGTCT | G | A | 0.463 | intron | |||||
17 | rs4773088 | 109219885 | CTTAACATCT.TAAGACCGGC | G | A | 0.219 | intron | |||||
18 | rs2241745 | 109220532 | GGGGCTGTGG.TGGCAGGAAA | A | G | 0.081 | intron | |||||
19 | rs7999797 | 109224001 | CCACTCAGTA.ACACCGTCCA | G | A | 0.468 | intron | |||||
20 | rs4771647 | 109225210 | TTTTAACCCC.AGAGAAGAGT | A | C | 0.215 | intron | |||||
21 | rs7981170 | 109229575 | AAACATTACC.ACATAACCCC | G | A | 0.156 | intron | |||||
22 | rs11618950 | 109232311 | CCAAAAAGTG.GAGCAGTGAA | G | A | 0.128 | intron | |||||
23 | rs1805097 | 109233232 | TGAGGCGGCG.CCGGGCCCTG | T | C | 0.441 | missense mutation | Gly | Asp | 1057 | GGC | 2 |
24 | rs9583424 | 109233303 | CCGGCGGCGG.GGCGGCGGCT | T | C | 0.155 | coding synonymous | Pro | Pro | 1033 | CCA | 3 |
25 | 9967402_329 | 109233309 | GCGGTGGCGG.GGCTGCAGAG | C | T | 0.014 | coding synonymous | Pro | Pro | 1031 | CCG | 3 |
26 | rs12853546 | 109233915 | TGCGCCCCAC.GGGGAGCTCA | G | A | 0.147 | coding synonymous | Pro | Pro | 829 | CCC | 3 |
27 | rs4773092 | 109233954 | TGTCCCCGCC.CAGGTGTAGG | G | A | 0.301 | coding synonymous | Cys | Cys | 816 | TGT | 3 |
28 | rs3742210 | 109234233 | AGCCGCCCCC.CTCGCCGGGA | A | G | 0.293 | coding synonymous | Ser | Ser | 723 | AGC | 3 |
29 | 9967406_432 | 109234890 | CTGGGCTGGA.CCGTACTCGT | G | T | 0.012 | coding synonymous | Gly | Gly | 504 | GGC | 3 |
30 | 9967410_456 | 109236513 | CGGCCGCCCG.CCGATCACGC | C | T | 0.011 | 5′-UTR | |||||
31 | 9966358_25 | 109237356 | AGCTTCCGCC.GGGAGGGGGC | G | A | 0.014 | promoter | |||||
32 | 10510452_28 | 109237452 | TGGGCGGCGA.CCGGGCCGTG | G | A | 0.015 | promoter | |||||
33 | 10510452_31 | 109237455 | GCGGCGAGCC.GGCCGTGCTC | G | A | 0.012 | promoter | |||||
34 | rs63193461 | 109237565 | CCGTCTCCCG.CCGCATCTCC | T | G | 0.13 | promoter | |||||
35 | 10510452_201 | 109237625 | CCGCGGCCGC.GGTTCGCGAG | G | C | 0.119 | promoter | |||||
36 | 10510452_333 | 109237757 | GCCATTCACT.GTCAGCTTGT | T | A | 0.016 | promoter | |||||
37 | rs3803239 | 109237955 | CAGGGGCGTC.TCTCCCCCCA | C | G | 0.116 | promoter | |||||
38 | 9966359_243 | 109237983 | AGGAGCACCC.CTTCCTTCCT | C | T | 0.012 | promoter | |||||
39 | 10467450_40 | 109238040 | CCCCTTCCTT.CACAGGGGCG | C | G | 0.069 | promoter | |||||
40 | rs4773094 | 109239484 | CCAGACTGGG.ACAAAAGAGA | G | A | 0.165 | promoter |
Single nucleotide polymorphism (SNP) ID in dbSNP (NCBI, build 131) or assigned ID for novel SNPs by investigators. IRS2, insulin receptor sustrate 2; MAF, minor allele frequency; UTR, untranslated region. DNA sequence in positive orientation.