Variant: rs121918554 

    present in Gene: SAMD9
    present in Chromosome: 7
    Position on Chromosome: 93101615
    Alleles of this Variant: T/C

rs121918554 in SAMD9 gene and Tumoral Calcinosis, Normophosphatemic, Familial PMID 16960814 2006 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

PMID 18094730 2008 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.