rs794727154, CPLANE1

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 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
65 1.000 5 37221446 missense variant G/A snv 1.4E-05 0.700 1.000 1 2018 2018