rs1567800920, 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.
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
131 1.000 0.280 16 53619047 stop gained C/T snv 0.700 0
JOUBERT SYNDROME 7
CUI: C1969053
Disease: JOUBERT SYNDROME 7
23 1.000 0.280 16 53619047 stop gained C/T snv 0.700 0