Table 2.
Locus | EBV dataset | EBV outcome | SNP | Chr | OR** | p | Finemapped SNP | Finemapped probability | Effect allele | EAF | n | Gene | Consequence type |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
2 | Gene (binary, variants < 1 sample) | BALF5 | rs2950922* | 8 | 1.30739 | 4.2E−12 | TRUE | 0.13317 | G | 0.10821 | 268 | UNC5D*** | Intron_variant |
3 | Gene (binary, variants < 1 sample) | BBRF1 | rs62124869* | 2 | 1.29103 | 4.3E−11 | TRUE | 0.71847 | C | 0.0541 | 268 | LINC01830 | Non_coding_transcript_variant |
1 | Amino acid (binary) | BRLF1:p.Lys316Glu | rs7808072* | 7 | 1.41346 | 6.8E−11 | FALSE | T | 0.06762 | 244 | |||
1 | Amino acid (binary) | BRLF1:p.Lys316Glu | rs6466720 | 7 | 1.42464 | 7.7E−11 | TRUE | 0.04783 | G | 0.06967 | 244 |
Top SNP and/or fine-mapped SNP per locus represented with: EBV dataset, EBV outcome, chromosome, SNP identifier, odds ratio, p value, whether this SNP is a top SNP or a fine-mapped SNP, the causal probability from FINEMAP, effect allele, effect allele frequency, sample size, corresponding gene, variant consequence, associated eQTL gene, associated eQTL associated eQTL gene and p value in GTEx (from https://gtexportal.org/home/)71. See Supplementary Table S1 for detailed information about all 25 variants and Supplementary Table S2 for fine-mapping results.
*SNP with locus-wide lowest p value.
**Odds ratio (exp(b) for logistic mixed effects model) in SHCS.
***Gene and tissue of eqtl association (p value of association), from GTEX:
UNC5D in Esophagus_Muscularis (p = 1.15243e−13), UNC5D in Esophagus_Gastroesophageal_Junction (p = 2.61983e−05).