rs749435317, TMEM67

N. diseases: 3
Disease: JOUBERT SYNDROME 6 ×
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 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.882 0.280 8 93786287 frameshift variant A/- del 0.700 1.000 1 2006 2006