rs757788894, CLCN7

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
Osteopetrosis, Autosomal Recessive 4
CUI: C1969106
Disease: Osteopetrosis, Autosomal Recessive 4
20 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
Osteosclerosis
CUI: C0029464
Disease: Osteosclerosis
1 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
25 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0