Table 2.
Description and statistics of the gene variants associated with copper score.
| Gene | Description | Non-ref. Allele Freq.1 NGS/Replication Cohort | Variant Type | Gene Function |
|---|---|---|---|---|
| NPC1 | NC_006589.3.g.64792857G>A (rs850609010) |
0.22/0.26 | splice region | Intracellular cholesterol transporter |
| RETN | NC_006602.3.g.52434480C>T (rs852470997) |
0.08/0.09 | Missense Leu7Phe | Pro-inflammatory adipokine associated with hepatic fibrosis and cirrhosis |
| MT-CO2 |
NC_002008.4:MT.7593T>C (novel) |
0.63/0.63 | Missense Met187Thr |
Subunit of Cytochrome C Oxidase |
Description of the variants associated with hepatic copper score. 1 Non-reference allele frequency.