rs121918199, RPGRIP1L

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 7
CUI: C1969053
Disease: JOUBERT SYNDROME 7
23 1.000 0.280 16 53686452 stop gained G/A snv 4.0E-06 0.700 0