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Chunk #26 — Results — GWAS meta-analysis of AUDIT total score

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Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts.
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We used FUMA to functionally annotate all 1,290 SNPs in the credible sets (see Supplementary Table 13). The majority of the SNPs were intronic (76.9%; N = 993) or intergenic (11.6%; N = 149), while only 26 SNPs (2.0%) were exonic. Furthermore, 38 SNPs showed CADD scores >12.37, which is the suggested threshold to be considered deleterious (35). The exonic SNPs (rs601338, rs17651549, rs13107325) of FUT2, MAPT and SLC39A8, respectively, had the highest CADD scores (>34), suggesting potential deleterious protein effects. 164 SNPs had RegulomeDB scores of 1a-1f, showing evidence of potential regulatory effects. 90.1% of the SNPs were in open chromatin regions (minimum chromatin state 1–7).