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 Molecular cloning of Fyn-associated molecules in the mouse central nervous system. 9185665

1997
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 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499

1988