Table 3

List of top 20 SNP differences in clearance and non-clearance patients

Gene nameSNP IDSNP in chromosomeMinor alleleMajor alleleFrequency in clearanceFrequency in controlsp ValueORFunction
1TNRrs2239818chr1_173642258AG0.010.221.28E−050.04Receptor binding; negative regulation of cell adhesion
2SPINT2rs3745948chr19_43471696TC0.050.331.46E−050.12Serine-type endopeptidase inhibitor activity
3TNRrs34842046chr1_173559295TA0.020.226.67E−050.08Receptor binding; negative regulation of cell adhesion
4HTR3Ers7627615chr3_185301110GA0.350.048.81E−0511.69Receptor activity; extracellular ligand-gated ion channel activity
5TMPRSS11Ars1370840chr4_68492841AG0.310.020.00015718.97TMPRSS11A expression in normal oesophagus, liver, colon and lung, with downregulated expression in tumours
6TMPRSS11Ars11930532chr4_68494878CT0.290.020.00015918.91TMPRSS11A expression in normal oesophagus, liver, colon and lung, with downregulated expression in tumours
7TMPRSS11Ars28437478chr4_68493016AT0.290.020.00018918.53TMPRSS11A expression in normal oesophagus, liver, colon and lung, with downregulated expression in tumours
8SALL2rs1263810chr14_21061466GC0.160.450.0002060.23DNA binding; sequence-specific DNA binding transcription factor activity
9SPATA 22rs9901726chr17_3290284TC0.020.190.0002230.09SPATA22
10SPATA 22rs2291604chr17_3299188GC0.020.190.0002230.09SPATA 22
11NMNAT2rs607332chr1_181519836AG0.180.480.0002270.24Nucleotide binding; nicotinamide-nucleotide adenylyltransferase activity
12NCKAP1Novelchr2_183540400TC0.030.220.0002660.11Protein binding; plasma membrane; apoptosis
13SPATA 22rs9900543chr17_3296435CT0.020.190.0003160.09SPATA 22
14NCKAP1Novelchr2_183501325TC0.030.220.0003190.12Protein binding; plasma membrane; apoptosis
15MARVELD3rs2303225chr16_70232383CG0.420.110.0003335.61Membrane; integral to membrane;
16TMPRSS11Ars6552134chr4_68511802GA0.270.020.0004816.25TMPRSS11Aexpression in normal oesophagus, liver, colon and lung, with downregulated expression in tumours
17ZNF491Novelchr19_11778746AC0.010.150.0005250.06DNA binding; zinc ion binding
18ZNF440Novelchr19_11804552AG0.010.150.0005250.06DNA binding; zinc ion binding
19ZNF439Novelchr19_11840305GC0.010.150.0005250.06DNA binding; zinc ion binding
20CA2rs2307075chr8_86575480CA0.340.660.0005280.27Kidney development; morphogenesis of an epithelium; carbonate dehydratase activity; protein binding
  • CA2, carbonate dehydratase II; HTR3E, 5-hydroxytryptamine receptor 3 family member E; MARVELD3, MARVEL domain containing 3; NCKAP1, NCK-associated protein 1; NMNAT2, nicotinamide mononucleotide adenylyltransferase 2; SALL2, sal-like protein 2; SNP, single nucleotide polymorphism; SPATA 22, spermatogenesis associated 22; SPINT2, serine peptidase inhibitor, kunitz type 2; TMPRSS11A, transmembrane protease, serine 11A; TNR, tenascin receptor; ZNF, zinc finger protein;