SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: Spinal Muscular Atrophy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893935
rs104893935
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C0026847
Disease:
Spinal Muscular Atrophy 		0.010 GeneticVariation BEFREE We show that SMN(A111G), an allele capable of snRNP assembly, can rescue mice that lack Smn and contain either one or two copies of SMN2 (SMA mice). 19329542 2009