rs137853063, VRK1

N. diseases: 4
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
0.710 GeneticVariation BEFREE In family 1, compound heterozygous mutations were identified in VRK1, c.356A>G; p.H119R, and c.1072C>T; p.R358*, in 2 siblings with adult onset distal spinal muscular atrophy (SMA). 27281532 2016
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
0.710 CausalMutation CLINVAR