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 | |||||||||
| AutG26058 | GIGYF2 | - | 2 | 233671353 | C | C/T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG26058 | GIGYF2 | - | 2 | 233677147 | G | A/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG26058 | GIGYF2 | - | 2 | 233704609 | G | C/G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG26058 | GIGYF2 | - | 2 | 233712060 | C | A/C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | Positive |
| AutG339766 | HEATR7B1 | - | 2 | 234713681 | G | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG79054 | TRPM8 | - | 2 | 234851324 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG116987 | AGAP1 | - | 2 | 236659033 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG1293 | COL6A3 | - | 2 | 238253016 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG1293 | COL6A3 | - | 2 | 238271991 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG114818 | KLHL29 | - | 2 | 23831678 | A | G | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG165324 | UBXN2A | - | 2 | 24205852 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG285093 | C2orf85 | - | 2 | 242814639 | T | C | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG285093 | C2orf85 | - | 2 | 242815059 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG50618 | ITSN2 | - | 2 | 24435599 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG55252 | ASXL2 | - | 2 | 26033181 | G | - | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG165082 | GPR113 | - | 2 | 26536727 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG9381 | OTOF | - | 2 | 26703734 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG9381 | OTOF | - | 2 | 26750775 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG11117 | EMILIN1 | - | 2 | 27308159 | G | A | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |
| AutG10669 | CGREF1 | - | 2 | 27324669 | C | T | 0 | 0 | 0 | 0 | 1 | 0 | 1 | |