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 | |||||||||
AutG7249 | TSC2 | - | 16 | 2127640 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG7249 | TSC2 | - | 16 | 2127711 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG7249 | TSC2 | - | 16 | 2133801 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG7249 | TSC2 | - | 16 | 2134508 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG197335 | WDR90 | - | 16 | 710696 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG374786 | EFCAB5 | - | 17 | 28414130 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10514 | MYBBP1A | - | 17 | 4458481 | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG146722 | CD300LF | - | 17 | 72691313_72691326 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG4155 | MBP | - | 18 | 74728772 | A | G | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1043788 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1045109 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1046317 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1050996 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1051481 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1057343 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1058883 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1059056 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1062248 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG10347 | ABCA7 | - | 19 | 1065305 | - | - | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |
AutG6326 | SCN2A | - | 2 | 166245217 | G | A | 0 | 0 | 0 | 0 | 0 | 1 | 1 | Positive |