Variant: rs1037828930

present in Gene: INTU present in Chromosome: 4 Position on Chromosome: 127669126 Alleles of this Variant: G/A;T

rs1037828930 in INTU gene and SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY PMID 27158779 2016 The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.