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. 2020 Oct 27;33(4):108323. doi: 10.1016/j.celrep.2020.108323

Table 2.

eQTL Effect of the Lead SNPs in Brain and Whole-Blood Tissues

Lead SNP Gene Lead SNP eQTL SNP eQTL SNP Gene r2 Tissue Ref Alt Ensebl Gene ID Minor Allele Samples Minor Allele Count MAF p Value Slope Slope SE
ATXN3 rs10143310 rs2896190 TRIP11 1.00 brain cerebellar hemisphere A G ENSG00000100815.12 78 90 0.26 6.8 × 10−7 0.24 0.05
ATXN3 rs10143310 rs2896190 TRIP11 1.00 brain cerebellum A G ENSG00000100815.12 89 104 0.25 2.5 × 10−8 0.29 0.05
ATXN3 rs10143310 rs7142326 ATNX3 0.56 whole blood T C ENSG00000066427.21 433 557 0.42 3.2 × 10−7 0.13 0.02
ATXN3 rs10143310 rs76497846 TRIP11 0.62 whole blood G A ENSG00000100815.12 407 516 0.39 3.0 × 10−5 0.09 0.02
ATXN3 rs10143310 rs12587248 NDUFB1 0.62 whole blood T C ENSG00000183648.9 356 423 0.32 2.5 × 10−8 0.10 0.02
B4GALNT1 rs12320537 rs2258877 B4GALNT1 0.88 brain cerebellar hemisphere A G ENSG00000135454.13 79 92 0.26 1.7 × 10−7 0.24 0.04
B4GALNT1 rs12320537 rs2258877 B4GALNT1 0.88 brain cerebellum A G ENSG00000135454.13 95 106 0.25 1.8 × 10−5 0.18 0.04
B4GALNT1 rs12320537 rs12322482 ATP23 0.99 whole blood G A ENSG00000166896.7 245 272 0.20 1.4 × 10−10 −0.29 0.04
SCFD1 rs229247 rs7154847 SCFD1 0.89 Brain anterior cingulate cortex BA24 G A ENSG00000092108.20 82 101 0.34 3.3 × 10−7 0.33 0.06
SCFD1 rs229247 rs229231 SCFD1 0.99 brain cerebellar hemisphere G A ENSG00000092108.20 107 143 0.41 3.1 × 10−16 0.33 0.03
SCFD1 rs229247 rs229152 SCFD1 0.94 brain cerebellum T C ENSG00000092108.20 126 164 0.39 2.2 × 10−24 0.37 0.03
SCFD1 rs229247 rs229173 SCFD1 0.95 brain cortex T C ENSG00000092108.20 123 159 0.39 2.1 × 10−7 0.23 0.04
SCFD1 rs229247 rs10130830 SCFD1 0.91 brain frontal cortex BA9 A G ENSG00000092108.20 113 146 0.42 1.4 × 10−8 0.27 0.05
SCFD1 rs229247 rs448175 SCFD1 1.00 whole blood G T ENSG00000092108.20 415 536 0.40 1.9 × 10−56 −0.28 0.02
ACSL5 rs58854276 rs2419629 ZDHHC6 0.90 brain cerebellum A G ENSG00000023041.11 113 144 0.34 2.1 × 10−7 0.28 0.05
ACSL5 rs58854276 rs72821869 ZDHHC6 0.84 brain cortex C T ENSG00000023041.11 121 152 0.37 7.6 × 10−6 0.29 0.06
ACSL5 rs58854276 rs12414780 ZDHHC6 0.83 brain frontal cortex BA9 C G ENSG00000023041.11 100 123 0.36 3.2 × 10−7 0.41 0.08
ACSL5 rs58854276 rs2419629 ZDHHC6 0.90 brain nucleus accumbens basal ganglia A G ENSG00000023041.11 120 151 0.37 1.9 × 10−8 0.40 0.07
ACSL5 rs58854276 rs12414780 ZDHHC6 0.83 brain putamen basal ganglia C G ENSG00000023041.11 101 129 0.38 1.3 × 10−5 0.34 0.08
ACSL5 rs58854276 rs72821869 ACSL5 0.84 whole blood C T ENSG00000197142.10 356 446 0.33 3.2 × 10−48 −0.38 0.02

For each lead SNP, we reported the most significant eQTLs from GTEx in LD (r2 > 0.5) with the lead SNP. For each eQTL, we reported the the r2 with the corresponding lead SNP, the tissue in which the effect was observed, the corresponding regulated gene, the number of samples carrying the minor allele, the total number of minor alleles, the minor allele frequency, the p value, and regression slope and its standard error. The data are from GTEx version 8.