rs1555202126, CEP290

N. diseases: 2
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.
Cystic renal dysplasia
CUI: C1834931
Disease: Cystic renal dysplasia
4 0.925 0.120 12 88071929 splice region variant G/C snv 0.700 0
Occipital Encephalocele
CUI: C0014067
Disease: Occipital Encephalocele
9 0.925 0.120 12 88071929 splice region variant G/C snv 0.700 0