rs727503855, 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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 3 2015 2016
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 3 2015 2016
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
103 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 3 2015 2016
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 1.000 1 2015 2015
Joubert syndrome 1
CUI: C4551568
Disease: Joubert syndrome 1
31 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 0
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.807 0.240 12 88118528 frameshift variant TT/-;T;TTT delins 7.1E-06 0.700 0