| Gene Symbol | SHMT2 |
|---|---|
| Entrez Id | 6472 |
| Position | chr12:57623356..57628718 |
| Description | serine hydroxymethyltransferase 2 (mitochondrial) |
| Gene type | protein-coding |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
|---|---|---|---|---|---|---|---|---|---|---|
| rs117244382 | 12:57627525 | A/G | SHMT2 | intron | 0.844 | 1.00985 | 0.0314 | 0.7563 | 5 | |
| rs2229716 | 12:57626582 | A/G | SHMT2 | coding-synon,ncRNA | 0.690 | 0.99402 | 0.0343 | 0.8601 | 7 | |
| rs2229717 | 12:57627074 | T/G | SHMT2 | coding-synon,ncRNA | 0.903 | 1.07929 | 0.0262 | 0.003577 | 6 | |
| rs34095989 | 12:57627717 | A/G | SHMT2 | intron | 0.954 | 1.01867 | 0.0112 | 0.1005 | 5 | |
| rs74093117 | 12:57625950 | A/G | SHMT2 | intron | 0.768 | 0.93333 | 0.0545 | 0.2058 | 6 | |
| SNP | Position | Alelle | Gene | Annotation | Info | Or | Se | P-value | eQTL | Score* |
| score | supporting data | score | supporting data |
|---|---|---|---|
| 1a | eQTL + TF binding + matched TF motif + matched DNase Footprint + DNase peak | 6 | other |
| 2a | TF binding + matched TF motif + matched DNase Footprint + DNase peak | 5 | TF binding or DNase peak |
| 1b | eQTL + TF binding + any motif + DNase Footprint + DNase peak | 4 | TF binding + DNase peak |
| 2b | TF binding + any motif + DNase Footprint + DNase peak | 3b | TF binding + matched TF motif |
| 1c | eQTL + TF binding + matched TF motif + DNase peak | 1f | eQTL + TF binding / DNase peak |
| 2c | TF binding + matched TF motif + DNase peak | 3a | TF binding + any motif + DNase peak |
| 1d | eQTL + TF binding + any motif + DNase peak | 1e | eQTL + TF binding + matched TF motif |
The gene is not affected by CNV!