rs200799769, TMEM231

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 20
CUI: C3554235
Disease: JOUBERT SYNDROME 20
4 0.925 16 75542641 missense variant C/T snv 6.8E-05 3.5E-05 0.800 1.000 3 2012 2016
MECKEL SYNDROME, TYPE 11
CUI: C3809352
Disease: MECKEL SYNDROME, TYPE 11
6 0.925 16 75542641 missense variant C/T snv 6.8E-05 3.5E-05 0.700 1.000 2 2012 2016