Table 2.
Primary information of LAMA1.
| Gene | LAMA1 | |||||
|---|---|---|---|---|---|---|
| Genotyped SNP | rs62081531 | rs621993 | rs539713 | rs566655 | rs73938538 | rs607230 |
| Allele | G > A | G > A | A > G | T > G | A > C | T > C |
| Consequence | Synonymous variant | Synonymous variant | Stop gained | Missense variant | Synonymous variant | Stop gained |
| RegulomeDB rank† | 7 | 4 | 5 | 5 | 5 | 4 |
| Chromosome | 18 | |||||
| Chromosome position‡ | 6986260 | 7033038 | 7017323 | 7034509 | 7008584 | 6980524 |
| MAF in control | A = 0.1810 | A = 0.1731 | G = 0.2768 | G = 0.1432 | C = 0.1142 | T = 0.1913 |
| MAF in 1000 genomes | ||||||
| Global | A = 0.1378 | A = 0.4065 | G = 0.5475 | G = 0.1502 | C = 0.1717 | T = 0.3063 |
| East Asian | A = 0.1915 | A = 0.1319 | G = 0.2262 | G = 0.1042 | C = 0.1091 | T = 0.1756 |
| MAF in gnomAD-genomes | ||||||
| Global | A = 0.178903 | A = 0.468719 | G = 0.612173 | G = 0.203225 | C = 0.157585 | T = 0.319456 |
| East Asian | A = 0.1986 | A = 0.1629 | G = 0.2540 | G = 0.1313 | C = 0.1097 | T = 0.1621 |
| p value for the HWE test in the controls | 0.9432 | 0.9743 | 0.9996 | 0.7212 | 0.8633 | 0.6770 |
| Genotyping method | LDR | |||||
| % genotyping value | 98.90% | 98.95% | 98.95% | 98.95% | 98.86% | 98.03% |
† https://www.regulomedb.org/. ‡Based on Genome Reference Consortium Human Build 38(GRCh38).