rs1060499781, CEP290

N. diseases: 4
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 1.000 3 2006 2010
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 1.000 3 2006 2010
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 1.000 3 2006 2010
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.851 0.240 12 88058846 splice region variant -/CC delins 0.700 0