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. 2021 Feb 25;11:4586. doi: 10.1038/s41598-021-84070-7

Table 2.

Summary of G2G analysis results.

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).