rs1414913269, 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.
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
65 0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06 0.700 1.000 1 2012 2012
OROFACIODIGITAL SYNDROME VI
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
29 0.925 0.080 5 37243012 splice donor variant C/G snv 7.0E-06 0.700 1.000 1 2012 2012