Variant: rs41348347 

    present in Gene: THBD
    present in Chromosome: 20
    Position on Chromosome: 23048049
    Alleles of this Variant: C/A

rs41348347 in THBD gene and HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 PMID 19625716 2009 Thrombomodulin mutations in atypical hemolytic-uremic syndrome.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

rs41348347 in THBD gene and Thrombophilia due to Thrombomodulin Defect PMID 12139752 2002 Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia.

PMID 9198186 1997 Thrombomodulin gene variations and thromboembolic disease.

PMID 7811989 1995 The first mutation identified in the thrombomodulin gene in a 45-year-old man presenting with thromboembolic disease.