Variant: rs140015315 

    present in Gene: ITGB6
    present in Chromosome: 2
    Position on Chromosome: 160195535
    Alleles of this Variant: C/T

rs140015315 in ITGB6 gene and AMELOGENESIS IMPERFECTA, TYPE IH PMID 24319098 2014 A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.

PMID 24305999 2014 ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.