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 | |||||||||
AutG2494 | NR5A2 | - | 1 | 200017391 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG343450 | KCNT2 | - | 1 | 196395019 | C | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 | Positive |
AutG83872 | HMCN1 | - | 1 | 185985113 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG777 | CACNA1E | - | 1 | 181721285 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG163589 | TDRD5 | - | 1 | 179609178 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG919 | CD247 | - | 1 | 167410000 | T | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG25790 | CCDC19 | - | 1 | 159846398 | C | T | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG3608 | ILF2 | - | 1 | 153637720 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG23126 | POGZ | - | 1 | 151379469 | G | GGTAC | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG51107 | APH1A | - | 1 | 150238957 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG8458 | TTF2 | - | 1 | 117632812 | C | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG4343 | MOV10 | - | 1 | 113235478 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG6814 | STXBP3 | - | 1 | 109321932 | A | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG10451 | VAV3 | - | 1 | 108138879 | G | C | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG22854 | NTNG1 | - | 1 | 107867061 | C | Y | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG22854 | NTNG1 | - | 1 | 107691283 | A | R | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG148534 | TMEM56 | - | 1 | 95616924 | A | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 | |
AutG343099 | CCDC18 | - | 1 | 93667486 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | Positive |
AutG84251 | SGIP1 | - | 1 | 67154953 | G | A | 0 | 0 | 2 | 0 | 0 | 0 | 2 | Positive |
AutG57685 | CACHD1 | - | 1 | 65139072 | T | G | 0 | 0 | 2 | 0 | 0 | 0 | 2 |