Table 5.
SLC25A40 variants which are rare and cause a coding change
| rsID | POS | REF | ALT | Annotation | GERP | N | Ancestry |
|---|---|---|---|---|---|---|---|
| rs943387265 | 87466057 | C | T | MS | 5.29 | 1 | AS |
| NA | 87470950 | T | A | MS | 5.82 | 1 | EA |
| rs1022111508 | 87470978 | T | C | MS | 5.92 | 1 | AA |
| rs369745713 | 87470986 | T | C | MS | 5.92 | 2 | EA |
| rs148648460 | 87473070 | G | C | MS | 5.67 | 1 | EA |
| rs140104130 | 87473143 | A | T | MS | 5.67 | 1 | EA |
| NA | 87473157 | T | TGTCTAAGTATTTTC | FS | NA | 1 | EA/AA |
| rs746455065 | 87473158 | CAT | C | FS | NA | 1 | EA |
| rs147753823 | 87473175 | A | C | MS | 5.67 | 6 | EA |
| rs775550958 | 87476272 | G | A | MS | 5.54 | 1 | EA |
| rs1035790230 | 87476319 | C | T | SG | 5.54 | 1 | EA |
| rs890753675 | 87476428 | A | G | MS | 5.54 | 1 | AA |
| NA | 87477248 | T | C | MS | 5.13 | 1 | EA |
| rs724665a | 87477257 | G | A | MS | 5.13 | 119 | AA (4), EA (112), EA/AS (3) |
| rs200954020 | 87479214 | C | T | MS | 5.48 | 6 | AS (5), EA/AS (1) |
| rs1021091982 | 87483577 | C | T | MS | 5.91 | 1 | EA |
| rs748627166 | 87483582 | A | T | SG | 3.57 | 1 | EA |
| rs1443219471 | 87483607 | C | G | MS | 5.03 | 1 | EA |
| NA | 87487954 | G | A | MS | 5.43 | 1 | EA |
| NA | 87488022 | TC | T | FS | NA | 1 | EA/AS |
| rs747192743 | 87488041 | A | G | MS | 5.53 | 2 | AS, EA |
POS = position on human build hg19 chromosome 7, REF = reference allele, ALT = alternative allele, MS = missense, FS = frameshift, SG = stop gain, AS = Asian ancestry, EA = European Ancestry, AA = African ancestry
ars724665 was assessed separately from the other missense variants