Table 2 Germline variants related to calcium metabolism
SNP ID | Gene | Chrs | Gene Region | Function | Calcium-related function or diseases |
|---|---|---|---|---|---|
p.F114delX115 | BTK | X | exonic | nonsynonymous SNV | Induces calcium mobilization and calcium-mediated signaling. |
rs202054008 | CACNA2D4 | 4 | exonic | nonsynonymous SNV | Regulates calcium current density and activation/inactivation of calcium channels |
rs75326924 | CD36 | 3 | exonic | nonsynonymous SNV | Regulates intracellular calcium levels by long-chain fatty acids. |
rs2229291 | CPT2 | 15 | splicing | NA | Calcium metabolism and abnormal calcium deposition. |
rs3888798 | CTSC | X | exonic | frameshift deletion | Deposition of calcium salts in a tissue or location in which calcification does not normally occur. |
rs147630160 | CXCL16 | 10 | exonic | nonsynonymous SNV | Induces calcium mobilization. |
rs117643139 | DRD2 | 4 | exonic | nonsynonymous SNV | Pituitary adenoma-related hypokalemia and hypocalcemia [42] |
rs139997095 | PKD1L2 | 7 | exonic | nonsynonymous SNV | Calcium ion transmembrane transport. |
rs201550522 | PRSS1 | 6 | exonic | nonsynonymous SNV | Deposition of calcium salts in a tissue or location in which calcification does not normally occur. |
rs201533738 | SLX4 | 7 | exonic | nonsynonymous SNV | Calcium metabolism. |
rs182693954 | TRPV1 | 12 | exonic | nonsynonymous SNV | Ligand-activated nonselective calcium permeant cation channel involved in the detection of noxious chemical and thermal stimuli. |