Variant: rs111033632

present in Gene: NOTCH2 present in Chromosome: 1 Position on Chromosome: 119967555 Alleles of this Variant: C/T

rs111033632 in NOTCH2 gene and Alagille Syndrome 2 PMID 16773578 2006 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.