rs751128300, RPGRIP1L

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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0
Meckel-Gruber syndrome
CUI: C0265215
Disease: Meckel-Gruber syndrome
105 0.925 0.200 16 53649068 stop gained G/A snv 2.0E-05 3.5E-05 0.700 0