rs727504412, 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 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 5 1997 2015
Alagille Syndrome
CUI: C0085280
Disease: Alagille Syndrome
18 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.925 0.120 20 10645245 frameshift variant ACTG/- delins 0.700 1.000 4 1997 2005