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 | |||||||||
AutG9412 | MED21 | - | 12 | 27180296 | T | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG3709 | ITPR2 | - | 12 | 27007721 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG8082 | SSPN | - | 12 | 26377307 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG6660 | SOX5 | - | 12 | 24573279 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG6660 | SOX5 | - | 12 | 23999045 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG6489 | ST8SIA1 | - | 12 | 22441359 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG6489 | ST8SIA1 | - | 12 | 22441355 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG55907 | CMAS | - | 12 | 22215336 | T | C | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG2998 | GYS2 | - | 12 | 21713361 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG10599 | SLCO1B1 | - | 12 | 21353475 | A | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | Positive |
AutG10599 | SLCO1B1 | - | 12 | 21353467 | C | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG28234 | SLCO1B3 | - | 12 | 21028412 | G | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG53919 | SLCO1C1 | - | 12 | 20890190 | G | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG53919 | SLCO1C1 | - | 12 | 20864352 | A | R | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG5139 | PDE3A | - | 12 | 20809161 | C | A | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG5288 | PIK3C2G | - | 12 | 18510220 | C | T | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG2984 | GUCY2C | - | 12 | 14811276 | A | G | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG2904 | GRI2B | - | 12 | 14127776 | - | - | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG2904 | GRI2B | - | 12 | 14019043 | T | TG | 0 | 0 | 1 | 0 | 0 | 0 | 1 | |
AutG2904 | GRIN2B | - | 12 | 14019043 | * | +G/* | 0 | 0 | 1 | 0 | 0 | 0 | 1 |