rs1057519466, HEXA

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Tay-Sachs Disease
CUI: C0039373
Disease: Tay-Sachs Disease
0.700 GeneticVariation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR
Cherry red spot of the macula
CUI: C2216370
Disease: Cherry red spot of the macula
0.700 GeneticVariation CLINVAR
Hyperacusis
CUI: C0034880
Disease: Hyperacusis
0.700 GeneticVariation CLINVAR
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
0.700 GeneticVariation CLINVAR