rs149170427, CPLANE1

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.
OROFACIODIGITAL SYNDROME VI
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
29 0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05 0.800 1.000 5 2011 2017
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
65 0.925 0.080 5 37198797 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 4 2013 2017