| Max Magnitude | Chromosome position | Summary |
---|
rs1057516724 | 0 | 71,590,285 | |
rs1057519132 | 0 | 71,664,401 | |
rs1057521141 | 0 | 71,679,197 | |
rs1064794020 | 0 | 71,679,173 | |
rs1064797253 | 0 | 71,664,399 | |
rs112493246 | 0 | 71,459,496 | |
rs1131691651 | 0 | 71,526,343 | |
rs115407852 | 0 | 71,681,053 | |
rs11903223 | 0 | 71,686,599 | |
rs121908953 | 0 | 71,553,071 | |
rs121908954 | 0 | 71,602,794 | |
rs121908955 | 0 | 71,682,597 | |
rs121908956 | 0 | 71,564,074 | |
rs121908957 | 0 | 71,481,934 | |
rs121908958 | 0 | 71,570,704 | |
rs121908959 | 0 | 71,674,242 | |
rs121908960 | 0 | 71,553,131 | |
rs121908961 | 0 | 71,667,376 | |
rs121908962 | 0 | 71,551,073 | |
rs121908963 | 0 | 71,517,028 | |
rs121908964 | 0 | 71,517,028 | |
rs13407355 | 0 | 71,513,823 | |
rs138268837 | 0 | 71,612,672 | |
rs138529893 | 0 | 71,461,486 | |
rs140108514 | 0 | 71,568,083 | |
rs141137410 | 0 | 71,664,407 | |
rs141497053 | 0 | 71,515,660 | |
rs150877497 | 0 | 71,570,680 | |
rs151317754 | 0 | 71,561,945 | |
rs189923208 | 0 | 71,551,040 | |
rs199870606 | 0 | 71,611,483 | |
rs199954546 | 0 | 71,568,339 | |
rs201049092 | 0 | 71,553,110 | |
rs201592500 | 0 | 71,669,179 | |
rs201869739 | 0 | 71,520,209 | |
rs202044973 | 0 | 71,535,282 | |
rs202218890 | 0 | 71,569,884 | |
rs2288355 | 0 | 71,568,022 | |
rs2303603 | 0 | 71,600,724 | |
rs2303607 | 0 | 71,611,527 | |
rs28937581 | 0 | 71,570,300 | |
rs28939700 | 0 | 71,570,704 | |
rs34997054 | 0 | 71,511,847 | |
rs35297901 | 0 | 71,564,125 | |
rs369607332 | 0 | 71,570,679 | |
rs370874727 | 0 | 71,589,591 | |
rs373585652 | 0 | 71,513,868 | |
rs377735262 | 0 | 71,551,631 | |
rs398123763 | 0 | 71,520,905 | |
rs398123764 | 0 | 71,480,901 | |
The dysferlin DYSF gene, located on chromosome 2, encodes the dysferlin protein. Dysferlin plays a role in muscle repair, and recessively inherited mutations in the DYSF gene have been associated with limb-girdle muscular dystrophy, type 2B, which is also known as Miyoshi myopathy.Wikipedia
The Jain Foundation is a resource for physicians and patients wishing dysferlin disease related information. In addition to a patient registry, the Jain Foundation has a diagnostic program to aid in identifying this rare disease as well as research programs to encourage the discovery of additional mutations, and ultimately, treatments.