Variant: rs137853086 

    present in Gene: GALNT3
    present in Chromosome: 2
    Position on Chromosome: 165770217
    Alleles of this Variant: G/A

rs137853086 in GALNT3 gene and TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 PMID 15687324 2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

PMID 15133511 2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.