rs1057517528, TMEM216

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 2
CUI: C1842577
Disease: JOUBERT SYNDROME 2
14 0.925 0.320 11 61393229 splice acceptor variant A/G snv 7.3E-06 2.1E-05 0.700 0
MECKEL SYNDROME, TYPE 2
CUI: C1864148
Disease: MECKEL SYNDROME, TYPE 2
12 0.925 0.320 11 61393229 splice acceptor variant A/G snv 7.3E-06 2.1E-05 0.700 0