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 | |||||||||
AutG254170 | FBXO33 | rs12897470 | 1 | 40825840 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG100131211 | TMEM194B | rs13019278 | 2 | 191384924 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs13166776 | 5 | 25971356 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs13176113 | 5 | 25900440 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs13187934 | 5 | 25902368 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG81551 | STMN4 | rs13270725 | 8 | 27085587 | C | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG81551 | STMN4 | rs13278976 | 8 | 27085479 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG23026 | MYO16 | rs1328244 | 1 | 110083898 | G | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG23026 | MYO16 | rs1328250 | 1 | 110058631 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs1335639 | 6 | 8483819 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative | rs1339359 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
AutG5581 | PRKCE | rs13404973 | 2 | 45997411 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
AutG5581 | PRKCE | rs13405086 | 2 | 45997519 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |
AutG6561 | SLC13A1 | rs1343905 | - | - | - | - | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative | rs1346536 | 5 | 25915652 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs1366465 | 5 | 25870090 | T | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG | None | rs1408744 | 6 | 23790115 | A | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG | MACROD2 NCRNA00186 | rs14135 | 2 | 14865156 | T | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive | rs1423435 | 5 | 37905088 | G | C | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Positive |
AutG114880 | OSBPL6 | rs1434087 | 2 | 179203797 | G | A | 1 | 0 | 0 | 0 | 0 | 0 | 1 | Negative |