Table 2 Genes and SNPs common to patients with CAKUT accompanied by cryptorchidism
Gene Symbol | Gene Name | Gene ID | Chromosomal location | RefSeq | SNPs | SNP ID | Amino acid replacement |
|---|---|---|---|---|---|---|---|
SMAD4 | SMAD family member 4 | 4089 | chr18: 48584791 | A | C | – | His290Pro |
|  |  |  | chr18: 48584794 | A | C | – | His291Pro |
ITGA8 | Integrin a8 | 8516 | chr10: 15573050 | A | G | rs1041135 | Val979Ala |
GRIP1 | Glutamate receptor interacting protein 1 | 23426 | chr12: 66786091 | G | C | rs7970387 | Gln822Glu |
FREM2 | FRAS1 related extracellular matrix protein 2 | 341640 | chr13: 39263714 | T | C | rs2496423 | Ser745Pro |
| Â | Â | Â | chr13: 39,430,314 | C | T | rs9548509 | Thr2326Ile |
FREM1 | FRAS1 related extracellular matrix protein 1 | 158326 | chr9: 14737506 | T | G | rs10961689 | Gln2143Pro |
TNXB | Tenascin XB | 7148 | chr6: 31977391 | C | T | rs6457477 | Arg504His |
BMP8B | Bone morphogenetic protein 8b | 656 | chr1: 40230336 | C | G | rs179472 | Ser276Thr |
SALL1 | Spalt-like transcription factor 1 | 6299 | chr16: 51171175 | C | T | rs4614723 | Val1178Ile |