View SNVs/InDels
| Entrez ID | Gene Symbol | SNP name | Chr | Position | ref | alt | Evidence Number | Total Number of Evidence | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GWAS | Low-Scale Genetic Association Studies | NGS de novo Mutation Studies | NGS Mosaic Mutation Studes | NGS Other Studies | Low-Scale Gene Studies | |||||||||
| AutG9501 | RPH3AL | rs7207517 | 1 | 125892 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG3431 | SP110 | rs722555 | 2 | 231033516 | C | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG10082 | GPC6 | rs7317246 | 1 | 94050926 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7325257 | 1 | 88405087 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7380139 | 5 | 25926366 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7388555 | 8 | 143212132 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
| AutG3745 | KCNB1 | rs742759 | 2 | 48061145 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG5245 | PHB | rs7502499 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG100287900 | GM2AP2 | rs7515001 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7523086 | 1 | 115823387 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG7035 | TFPI | rs7573488 | 2 | 188398080 | G | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative | rs7576135 | 2 | 86160562 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
| AutG115677 | NOSTRIN | rs7583629 | 2 | 169672879 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
| AutG6326 | SCN2A | rs764660 | 2 | 166213297 | T | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative | rs7705715 | 5 | 25899414 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7716420 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative | rs7720426 | 5 | 26065402 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG54901 | CDKAL1 | rs7741604 | 6 | 20731524 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs7787173 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
| AutG | None | rs7800565 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |