rs1554972547, TMEM216

N. diseases: 3
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.
Familial aplasia of the vermis
CUI: C0431399
Disease: Familial aplasia of the vermis
187 0.882 0.320 11 61393883 splice acceptor variant G/A snv 0.700 1.000 1 2010 2010
JOUBERT SYNDROME 2
CUI: C1842577
Disease: JOUBERT SYNDROME 2
14 0.882 0.320 11 61393883 splice acceptor variant G/A snv 0.700 0
MECKEL SYNDROME, TYPE 2
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
12 0.882 0.320 11 61393883 splice acceptor variant G/A snv 0.700 0