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 | |||||||||
AutG23389 | MED13L | - | 12 | 116434859 | - | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG23389 | MED13L | - | 12 | 116429238 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG23389 | MED13L | - | 12 | 116424952 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG23389 | MED13L | - | 12 | 116403994 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG9904 | RBM19 | - | 12 | 114362501 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG9904 | RBM19 | - | 12 | 114362500 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG9904 | RBM19 | - | 12 | 114352870 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG53373 | TPCN1 | - | 12 | 113724837 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG53373 | TPCN1 | - | 12 | 113715195 | AG | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG8437 | RASAL1 | - | 12 | 113544958 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG8437 | RASAL1 | - | 12 | 113537769 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG1840 | DTX1 | - | 12 | 113515286 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG4940 | OAS3 | - | 12 | 113405230 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG22895 | RPH3A | - | 12 | 113314541 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG5781 | PTPN11 | - | 12 | 112926887 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG5781 | PTPN11 | - | 12 | 112926270 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG | HECTD4 | - | 12 | 112669402 | T | TG | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG283450 | C12orf51 | - | 12 | 112654745 | G | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG283450 | C12orf51 | - | 12 | 112614406 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG283450 | C12orf51 | - | 12 | 112607491 | A | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 |