rs1057518928, SOX5

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.700 GeneticVariation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 GeneticVariation CLINVAR