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 | |||||||||
AutG10343 | PKDREJ | - | 22 | 46652879 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | Positive |
AutG6305 | SBF1 | - | 22 | 50898487 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG6305 | SBF1 | - | 22 | 50899030 | T | Y | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG55209 | SETD5 | - | 3 | 9486949 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG6529 | SLC6A1 | - | 3 | 11067982 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | Positive |
AutG25924 | MYRIP | - | 3 | 40085652 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG1499 | CTNNB1 | - | 3 | 41275757 | C | Y | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG29072 | SETD2 | - | 3 | 47164140 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG6599 | SMARCC1 | - | 3 | 47702879 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG4134 | MAP4 | - | 3 | 47957453 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG1294 | COL7A1 | - | 3 | 48621941 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG3615 | IMPDH2 | - | 3 | 49064457 | C | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG54870 | QRICH1 | - | 3 | 49114314 | TG | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG1605 | DAG1 | - | 3 | 49570115 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG11188 | NISCH | - | 3 | 52492846 | C | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG8618 | CADPS | - | 3 | 62543117 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG10402 | ST3GAL6 | - | 3 | 98510684 | G | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG9515 | STXBP5L | - | 3 | 120628487 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG111 | ADCY5 | - | 3 | 123046605 | G | R | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG4171 | MCM2 | - | 3 | 127327353 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 |