rs145665129, 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.
JOUBERT SYNDROME 7
CUI: C1969053
Disease: JOUBERT SYNDROME 7
23 0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2015 2015
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 0.925 0.360 16 53645895 stop gained G/A snv 1.6E-05 7.0E-06 0.700 0