# | Gene | Disease | Chromosome | HF SNP rsID | AF SNP rsID | Gene Location (HF) | Gene Location (AF) | Gene Role |
---|---|---|---|---|---|---|---|---|
1 | SYNPO2L | HF, AF | 10 | rs4746140 | rs60212594; rs10824026 | intergenic | intron; 5Â kb upstream | Cardiac development: expressed in skeletal and cardiac muscle, localize to the Z-disk and interact with numerous other proteins |
2 | TTN | HF, AF | 2 | N/A | rs35504893; rs2288327 | N/A | intronic | Sarcomere assembly, stretch sensing and signaling, passive stiffness adjustment; encodes for a large sarcomeric protein known as titin |
3 | MTSS1 | HF, AF | 8 | N/A | rs35006907 | N/A | regulatory region | Cytoskeleton signaling pathway and encodes a scaffold protein which regulates actin dynamics |
4 | SCN5A | HF, AF | 3 | rs1805126 | 3 variants | coding | N/A | Associated w/expression of MYOZ1 and SYNPO2L encoding 2 alpha-actinin-binding Z-disk cardiac proteins; encodes protein for cardiac sodium channel |
5 | PITX2 | HF, AF | 4 | rs17042102 | rs2129977 | intergenic | intergenic | Encodes a transcription factor |
6 | KLHL3 | HF, AF | 5 | rs11745324 | rs2967791 | intronic | intronic | A negative regulator of the thiazide-sensitive Na + Cl- cotransporter (SLC12A3) in the distal nephron |
7 | AGAP5 | HF, AF | 10 | rs4746140 | N/A | intergenic | N/A | Associated w/expression of MYOZ1 and SYNPO2L encoding 2 alpha-actinin-binding Z-disk cardiac proteins |