rs121918351, JAG1

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.
Alagille Syndrome 1
CUI: C1956125
Disease: Alagille Syndrome 1
48 0.882 0.240 20 10658611 missense variant C/T snv 0.800 1.000 17 1997 2015
Deafness, Congenital Heart Defects, and Posterior Embryotoxon
CUI: C1866053
Disease: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
2 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.882 0.240 20 10658611 missense variant C/T snv 0.700 0