Association of rare nonsynonymous exonic variants in the ADAMTS13 gene with ADAMTS13 activity, adjusted for common variants rs41314453, rs3118667, and rs139911703
| SNP name . | Amino acid change . | Position* . | Exon . | Effect/Other allele . | Frequency . | β . | P . |
|---|---|---|---|---|---|---|---|
| rs148312697 | Asp187His | 136 291 338 | 6 | C/G | 0.16% | −32.1 | 3.3 × 10−6 |
| rs142572218 | Arg1060Trp | 136 319 670 | 24 | T/C | 0.06% | −46.7 | 1.8 × 10−5 |
| rs36222275 | Gly982Arg | 136 314 986 | 23 | A/G | 0.34% | −13.3 | 4.4 × 10−3 |
| SNP name . | Amino acid change . | Position* . | Exon . | Effect/Other allele . | Frequency . | β . | P . |
|---|---|---|---|---|---|---|---|
| rs148312697 | Asp187His | 136 291 338 | 6 | C/G | 0.16% | −32.1 | 3.3 × 10−6 |
| rs142572218 | Arg1060Trp | 136 319 670 | 24 | T/C | 0.06% | −46.7 | 1.8 × 10−5 |
| rs36222275 | Gly982Arg | 136 314 986 | 23 | A/G | 0.34% | −13.3 | 4.4 × 10−3 |
β, β coefficient, which should be interpreted as the change in ADAMTS13 activity (%) per 1 allele increase in the effect allele; frequency, frequency of the effect allele; SNP, single nucleotide polymorphism.
Adjustments: Age, sex, principal components 1-4, rs41314453, rs3118667, and rs139911703.
The DNA position is coded according to the build 37 and refers to the position on chromosome 9.