Variant: rs1554336981 

    present in Gene: SAMD9
    present in Chromosome: 7
    Position on Chromosome: 93103178
    Alleles of this Variant: C/T

rs1554336981 in SAMD9 gene and MIRAGE SYNDROME PMID 27182967 2016 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

rs1554336981 in SAMD9 gene and Multiple congenital anomalies 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.

PMID 27182967 2016 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

PMID 24029230 2013 Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.