JAG1, jagged canonical Notch ligand 1, 182

N. diseases: 420; N. variants: 63
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863223648
rs863223648
1.000 20 10663962 splice donor variant C/T snv
CUI: C3805239
Disease: Mid aortic syndrome
Mid aortic syndrome
0.700 1.000 1 2018 2018