Variant: rs201948500 

    present in Gene: DYNC2LI1
    present in Chromosome: 2
    Position on Chromosome: 43794485
    Alleles of this Variant: C/G

rs201948500 in DYNC2LI1 gene and SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY PMID 26077881 2015 Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.

PMID 26130459 2015 DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects.