rs145895196, JAG1

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.
Alagille Syndrome
CUI: C0085280
Disease: Alagille Syndrome
18 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.925 0.120 20 10641566 missense variant C/A;T snv 1.6E-05; 1.9E-03 0.010 1.000 1 2013 2013