rs1568793309, 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 0.120 20 10643851 frameshift variant G/- del 0.700 0
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.882 0.120 20 10643851 frameshift variant G/- del 0.700 0
Peripheral pulmonary artery stenosis
CUI: C0345030
Disease: Peripheral pulmonary artery stenosis
3 0.882 0.120 20 10643851 frameshift variant G/- del 0.700 0