Table 2:
ID | POS | Family | LOD | Gene | FREQ1 | FREQ2 | TF Binding |
Potential TF Protein |
---|---|---|---|---|---|---|---|---|
rs564982701 | 157406633 | 59 | 0.7561 | ARID1B | 0.0168 | 0.0011 | 0.93 | ATF5 CCTCTTCCTTA |
rs187390535 | 157172983 | 47 | 0.8131 | ARID1B | 0.0143 | 0.0077 | 0.87 | BARHL2 TAAACG |
rs150018283 | 157322342 | 47 | 0.8132 | ARID1B | 0.0142 | 0.0015 | 1.0 | IRF7 ACTTTCGCTTTCG TRIM63 AGTTTCACTTT |
rs62435519 | 161536849 | 44 | 1.2865 | MAP3K4 | 0.0164 | 0.0061 | 0.61 | N/A |
rs140997681 | 161489813 | 42 | 0.5351 | MAP3K4 | 0.0156 | 0.0015 | 0.24 | GABPA ATGACTCAGCA |
rs186871831 | 144973790 | 30 | 0.7701 | UTRN | 0.0151 | 0.0066 | 0.70 | N/A |
rs532363235 | 144709986 | 33 | 0.5484 | UTRN | 0.0149 | 0.0023 | 0.59 | N/A |
rs191491353 | 144670343 | 35 | 0.3277 | UTRN | 0.0171 | 0.0086 | 0.39 | NFKB1 GGGGATTCCCT, NFKB2 GGGGAATCCCC, REL GGGTTTCC |
rs966382235 | 144001704 | 30 | 0.7693 | PHACTR2 | 0.0153 | 0.0003 | 0.61 | N/A |
rs79313503 | 143998579 | 33 | 0.5629 | PHACTR2 | 0.0154 | 0.0030 | 0.61 | N/A |
rs553447284 | 144051910 | 35 | 0.3388 | PHACTR2 | 0.0142 | 0.0002 | 0.58 | N/A |
Legend: The best candidate causal variants for each family in the best candidate gene along the linked haplotype. All variants are intronic. Here, the headers represent: ID = rs ID of the variant, POS = the physical position in base pairs, Family = Family that the minor allele of the variant appears in, LOD = LOD score of the variant from the family in column 3, Gene = the genic location of the variant, FREQ1 = the minor allele frequency of the variant in the founders in all families in our dataset, FREQ2 = the minor allele frequency of the variant in gnomAD NFE, TF binding = the transcription factor binding probability score of the variant as calculated by RegulomeDB, with 1.0 being the highest score and corresponding to a 100% chance of the variant being a TF binding site, Potential TF Protein = Protein that is known to bind to the motif that the SNP is found in (according to RegulomeDB). The binding motif of the protein is provided below the protein name (with the SNP allele bolded).