Variant: rs149459910 

    present in Gene: ECEL1
    present in Chromosome: 2
    Position on Chromosome: 232483452
    Alleles of this Variant: C/T

rs149459910 in ECEL1 gene and Distal arthrogryposis type 5D PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.