THBD, thrombomodulin, 7056

N. diseases: 303; N. variants: 23
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918667
rs121918667 		0.925 0.080 20 23049347 missense variant T/C snv 8.8E-06 7.0E-06
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.800 1.000 4 2009 2010
dbSNP: rs1800578
rs1800578 		1.000 20 23048022 missense variant G/A;T snv 4.9E-04
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 1.000 4 2009 2010
dbSNP: rs1800576
rs1800576 		0.925 0.080 20 23049378 missense variant C/T snv 2.0E-03 2.5E-03
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 1.000 2 2009 2010
dbSNP: rs1800579
rs1800579 		1.000 20 23048003 missense variant G/A snv 1.8E-03 1.9E-03
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 1.000 2 2009 2010
dbSNP: rs41348347
rs41348347 		0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 1.000 2 2009 2010
dbSNP: rs758686992
rs758686992 		1.000 20 23048798 missense variant G/C snv 1.1E-04 2.6E-04
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 0
dbSNP: rs772288987
rs772288987 		1.000 20 23049264 missense variant C/A;G;T snv 7.1E-06
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 0