rs750950408, TMEM67

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.
COACH syndrome
CUI: C1857662
Disease: COACH syndrome
38 0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 3 2009 2017
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
48 0.925 0.280 8 93765414 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 1.000 1 2015 2015