Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918667
rs121918667
THBD
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
THBD
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: rs41348347
rs41348347
THBD
0.882 0.120 20 23048049 missense variant C/A snv 8.4E-03 2.8E-03
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
Thrombophilia due to Thrombomodulin Defect 		0.700 1.000 3 1995 2002
dbSNP: rs1800576
rs1800576
THBD
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
THBD
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
THBD
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: rs13306848
rs13306848
THBD
20 23049706 upstream gene variant C/G;T snv 1.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13306848
rs13306848
THBD
20 23049706 upstream gene variant C/G;T snv 1.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3176130
rs3176130
THBD
20 23051019 upstream gene variant C/T snv 3.2E-02
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.700 1.000 1 2013 2013
dbSNP: rs3176134
rs3176134
THBD
20 23047500 3 prime UTR variant C/A;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3176134
rs3176134
THBD
20 23047500 3 prime UTR variant C/A;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16984852
rs16984852
THBD
1.000 0.040 20 23049655 5 prime UTR variant C/A snv 3.9E-04 1.9E-04
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
Thrombophilia due to Thrombomodulin Defect 		0.700 0
dbSNP: rs398122807
rs398122807
THBD
1.000 0.040 20 23048296 missense variant C/A snv 1.4E-05
CUI: C3280976
Disease: Thrombophilia due to Thrombomodulin Defect
Thrombophilia due to Thrombomodulin Defect 		0.700 0
dbSNP: rs758686992
rs758686992
THBD
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
THBD
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