rs757788894, CLCN7

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteosclerosis
CUI: C0029464
Disease: Osteosclerosis
0.700 GeneticVariation CLINVAR
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.700 GeneticVariation CLINVAR
Osteopetrosis, Autosomal Recessive 4
CUI: C1969106
Disease: Osteopetrosis, Autosomal Recessive 4
0.700 GeneticVariation CLINVAR
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
0.700 GeneticVariation CLINVAR
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 GeneticVariation CLINVAR
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 GeneticVariation CLINVAR