rs386834151, CEP290

N. diseases: 1
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.
MECKEL SYNDROME, TYPE 4
CUI: C1970161
Disease: MECKEL SYNDROME, TYPE 4
26 1.000 0.240 12 88115146 frameshift variant TT/- delins 0.700 0