Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1382415023
rs1382415023
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells]. 1944255

1991
dbSNP: rs1382415023
rs1382415023
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Characterising and predicting haploinsufficiency in the human genome. 20976243

2010
dbSNP: rs1382415023
rs1382415023
SON
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A selection system for human apoptosis inhibitors using yeast. 10509013

1999