rs587779733, 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-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 1.000 0.040 12 88084669 frameshift variant T/- delins 0.700 0