Variant: rs267606985 

    present in Gene: PTHLH
    present in Chromosome: 12
    Position on Chromosome: 27963693
    Alleles of this Variant: A/G

rs267606985 in PTHLH gene and BRACHYDACTYLY, TYPE E2 PMID 20170896 2010 Deletion and point mutations of PTHLH cause brachydactyly type E.