SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: Generalized hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561500885
rs1561500885
Entrez Id: 6606;6607
Gene Symbol: SMN1;SMN2
SMN1;SMN2
CUI: C1858120
Disease:
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649 2007