Variant: rs121917857

present in Gene: IHH present in Chromosome: 2 Position on Chromosome: 219057441 Alleles of this Variant: A/G

rs121917857 in IHH gene and Acrocapitofemoral Dysplasia PMID 12632327 2003 Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.