Variant: rs1553193507 

    present in Gene: NOTCH2
    present in Chromosome: 1
    Position on Chromosome: 119915869
    Alleles of this Variant: G/A

rs1553193507 in NOTCH2 gene and Hajdu-Cheney Syndrome PMID 21378989 2011 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.