rs367543061, 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 37187488 missense variant G/A snv 1.6E-05; 4.0E-06 2.1E-05 0.800 1.000 4 2012 2015