Variant: rs863223650

present in Gene: JAG1;MIR6870 present in Chromosome: 20 Position on Chromosome: 10650325 Alleles of this Variant: C/T

rs863223650 in JAG1;MIR6870 gene and Alagille Syndrome 1 PMID 22487239 2012 Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.

PMID 11058898 2000 Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.