rs773386777, CEP290

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.
Cerebellar cyst
CUI: C1847762
Disease: Cerebellar cyst
3 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
Congenital anomaly of the kidney
CUI: C0266292
Disease: Congenital anomaly of the kidney
4 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
Hyperechogenic kidneys
CUI: C3275899
Disease: Hyperechogenic kidneys
2 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0
Polycystic Kidney Diseases
CUI: C0022680
Disease: Polycystic Kidney Diseases
54 1.000 0.160 12 88093977 splice acceptor variant T/C snv 0.700 0