rs41348347, THBD

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Thrombophilia due to Thrombomodulin Defect
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
3 0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03 0.700 1.000 3 1995 2002
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
7 0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03 0.700 1.000 2 2009 2010
Atypical Hemolytic Uremic Syndrome
CUI: C2931788
Disease: Atypical Hemolytic Uremic Syndrome
42 0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03 0.010 1.000 1 2014 2014