VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Abnormality of coagulation ×
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: rs144072210
rs144072210 		12 5996214 missense variant T/C snv 5.6E-04 5.5E-04
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs149834874
rs149834874 		12 5952518 missense variant C/A;G;T snv 4.0E-06; 1.5E-03; 2.4E-05
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs1800382
rs1800382 		12 6019222 missense variant C/A;T snv 4.0E-06; 8.6E-03
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs41276738
rs41276738 		0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs61749384
rs61749384 		0.882 0.080 12 6019502 missense variant G/A snv
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs61750095
rs61750095 		12 6018965 frameshift variant C/-;CC delins
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs61750604
rs61750604 		12 6016549 missense variant C/G;T snv 8.0E-06; 7.6E-04
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019
dbSNP: rs62643634
rs62643634 		12 6036487 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		0.700 1.000 1 2019 2019