rs749439750, 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.
JOUBERT SYNDROME 5
CUI: C1857780
Disease: JOUBERT SYNDROME 5
45 1.000 0.200 12 88084768 stop gained G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2015 2015