Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561500885
rs1561500885
SMN1 ; SMN2
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		C 0.700 GeneticVariation CLINVAR Spinal muscular atrophy diagnostics. 17761649

2007