| | Max Magnitude | Chromosome position | Summary |
|---|
| rs1057517787 | 0 | 22,076,464 | |
| rs1057517788 | 0 | 22,076,475 | |
| rs1057517789 | 0 | 22,077,539 | |
| rs1057517790 | 0 | 22,077,542 | |
| rs1057517791 | 0 | 22,096,988 | |
| rs1057517792 | 0 | 22,099,118 | |
| rs1057517793 | 0 | 22,114,464 | |
| rs1057517794 | 0 | 22,178,272 | |
| rs1057517795 | 0 | 22,219,050 | |
| rs1057517796 | 0 | 22,219,105 | |
| rs1057517797 | 0 | 22,227,616 | |
| rs1057517798 | 0 | 22,247,862 | |
| rs1057517799 | 0 | 22,247,940 | |
| rs1057517800 | 0 | 22,247,947 | |
| rs1057517896 | 0 | 22,111,562 | |
| rs1057517904 | 0 | 22,133,533 | |
| rs1057517979 | 0 | 22,219,062 | |
| rs1057517980 | 0 | 22,219,071 | |
| rs1057517981 | 0 | 22,247,901 | |
| rs1057518214 | 0 | 22,178,382 | |
| rs1057518246 | 0 | 22,227,573 | |
| rs1057518348 | 0 | 22,077,704 | |
| rs1057518377 | 0 | 22,178,378 | |
| rs1057518596 | 0 | 22,227,612 | |
| rs1057518896 | 0 | 22,247,873 | |
| rs1057520582 | 0 | 22,212,959 | |
| rs1057520756 | 0 | 22,219,052 | |
| rs1057521143 | 0 | 22,077,604 | |
| rs1057521144 | 0 | 22,094,100 | |
| rs1057521800 | 0 | 22,219,074 | |
| rs1057524608 | 0 | 22,219,108 | |
| rs1064793227 | 0 | 22,111,561 | |
| rs1064793228 | 0 | 22,168,390 | |
| rs1064793229 | 0 | 22,245,400 | |
| rs1064793461 | 0 | 22,178,315 | |
| rs1064793526 | 0 | 22,038,502 | |
| rs1064793847 | 0 | 22,114,486 | |
| rs1064793918 | 0 | 22,219,105 | |
| rs1064793956 | 0 | 22,090,447 | |
| rs1064794150 | 0 | 22,247,900 | |
| rs1064794303 | 0 | 22,038,501 | |
| rs1064794305 | 0 | 22,219,100 | |
| rs1064794306 | 0 | 22,212,916 | |
| rs1064794849 | 0 | 22,227,602 | |
| rs1064794999 | 0 | 22,245,339 | |
| rs1064795106 | 0 | 22,219,049 | |
| rs1064795147 | 0 | 22,227,506 | |
| rs1064795949 | 0 | 22,047,194 | |
| rs1064796391 | 0 | 22,094,011 | |
| rs1064796434 | 0 | 22,245,411 | |
The PHEX gene, located on the X chromosome, provides instructions for making an enzyme that is active primarily in bones and teeth.
More than 200 mutations in the PHEX gene have been found to cause the most common form of hereditary hypophosphatemic rickets, which is known as X-linked hypophosphatemic rickets or familial X-linked hypophosphatemic vitamin D refractory rickets.GHR
X-linked hypophosphatemia (XLH), also known as X-linked hypophosphatemic rickets is the most common form of rickets that runs in families, inherited in an (X-linked) dominant manner. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets (X linked recessive and autosomal dominant as well as autosomal recessive) has been identified in only a few families.GHR
