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DYSF

From SNPedia
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# SNPs169
 Max MagnitudeChromosome positionSummary
rs1057516724071,590,285
rs1057519132071,664,401
rs1057521141071,679,197
rs1064794020071,679,173
rs1064797253071,664,399
rs11249324671,459,496
rs1131691651071,526,343
rs115407852071,681,053
rs11903223071,686,599
rs121908953071,553,071
rs121908954071,602,794
rs121908955071,682,597
rs121908956071,564,074
rs121908957071,481,934
rs121908958071,570,704
rs121908959071,674,242
rs121908960071,553,131
rs121908961071,667,376
rs121908962071,551,073
rs121908963071,517,028
rs121908964071,517,028
rs1340735571,513,823
rs138268837071,612,672
rs13852989371,461,486
rs140108514071,568,083
rs141137410071,664,407
rs141497053071,515,660
rs150877497071,570,680
rs151317754071,561,945
rs189923208071,551,040
rs199870606071,611,483
rs199954546071,568,339
rs201049092071,553,110
rs201592500071,669,179
rs201869739071,520,209
rs202044973071,535,282
rs202218890071,569,884
rs228835571,568,022
rs2303603071,600,724
rs230360771,611,527
rs28937581071,570,300
rs2893970071,570,704
rs34997054071,511,847
rs35297901071,564,125
rs369607332071,570,679
rs370874727071,589,591
rs373585652071,513,868
rs377735262071,551,631
rs398123763071,520,905
rs398123764071,480,901
... further results

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.