Top variants from discovery cohort GWAS, which reached statistical significance in the replication cohort
| Variant ID . | REF . | ALT . | Discovery MAF . | β (95% CI) . | P value . | Replication MAF . | β (95% CI) . | P value . | Overlap Gene . | Functional Annotation . |
|---|---|---|---|---|---|---|---|---|---|---|
| rs1555175145 | C | TCTG | 0.393 | −0.076 (−0.112 to −0.041) | 2.497 × 10−5 | 0.435 | −0.104 (−0.204 to −0.004) | .041 | None | None |
| rs66867403 | A | — | 0.233 | 0.084 (0.044-0.125) | 4.992 × 10−5 | 0.244 | 0.154 (0.036-0.272) | .010 | ADGRL2 [LPHN2] | Intronic |
| rs2849940 | T | A, C, G | 0.150 | 0.098 (0.050-0.145) | 6.260 × 10−5 | 0.155 | 0.201 (0.071-0.061) | .005 | None | None |
| rs149530346 | TAAG | — | 0.096 | 0.118 (0.060-0.176) | 8.110 × 10−5 | 0.086 | 0.211 (0.031-0.390) | .022 | NAALADL2 | Intronic |
| Variant ID . | REF . | ALT . | Discovery MAF . | β (95% CI) . | P value . | Replication MAF . | β (95% CI) . | P value . | Overlap Gene . | Functional Annotation . |
|---|---|---|---|---|---|---|---|---|---|---|
| rs1555175145 | C | TCTG | 0.393 | −0.076 (−0.112 to −0.041) | 2.497 × 10−5 | 0.435 | −0.104 (−0.204 to −0.004) | .041 | None | None |
| rs66867403 | A | — | 0.233 | 0.084 (0.044-0.125) | 4.992 × 10−5 | 0.244 | 0.154 (0.036-0.272) | .010 | ADGRL2 [LPHN2] | Intronic |
| rs2849940 | T | A, C, G | 0.150 | 0.098 (0.050-0.145) | 6.260 × 10−5 | 0.155 | 0.201 (0.071-0.061) | .005 | None | None |
| rs149530346 | TAAG | — | 0.096 | 0.118 (0.060-0.176) | 8.110 × 10−5 | 0.086 | 0.211 (0.031-0.390) | .022 | NAALADL2 | Intronic |
Summary statistics from the top variants in the discovery cohort GWAS as well as corresponding statistics in the replication cohort are provided. Additionally listed for the variants are the location and function. The “Overlap Gene” column indicates whether the variant is located in a coding region (introns and exons). The “Functional Annotation” column lists the location classification of each variant located in a gene: coding, intronic, or untranslated regions of transcript isoforms of the gene.
ADGRL2, adhesion G protein-coupled receptor L2; ALT, alternative allele; Discovery MAF, frequency of the minor allele in discovery cohort; Replication MAF, frequency of the minor allele in the replication cohort; NAALADL2: N-acetylated α-linked acidic dipeptidase-like 2; REF, reference allele.