VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
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: rs61749397
rs61749397 		0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0235604
Disease: Qualitative platelet deficiency
Qualitative platelet deficiency 		0.020 1.000 2 2013 2017
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063856
rs1063856 		0.763 0.400 12 6044368 missense variant T/C;G snv 0.31
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C2825856
Disease: Factor VII measurement
Factor VII measurement 		0.700 1.000 1 2013 2013
dbSNP: rs1063857
rs1063857 		12 6044348 synonymous variant A/G snv 0.31 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2010 2010
dbSNP: rs11064010
rs11064010 		12 6050980 intron variant T/A;C snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs11064010
rs11064010 		12 6050980 intron variant T/A;C snv
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs112814955
rs112814955 		12 6116765 intron variant G/A snv 5.5E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs12423482
rs12423482 		12 5961679 intron variant A/G snv 4.4E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1395198370
rs1395198370 		12 6075370 missense variant A/G snv 7.0E-06
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 1.000 1 2009 2009
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: rs216303
rs216303 		12 6049879 intron variant C/T snv 0.89
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs216311
rs216311 		0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs216311
rs216311 		0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2238109
rs2238109 		12 6044801 intron variant T/A snv 0.40
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2238109
rs2238109 		12 6044801 intron variant T/A snv 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs2283335
rs2283335 		12 6048228 intron variant T/C snv 0.40
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		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: rs57040304
rs57040304 		12 5953728 non coding transcript exon variant A/G snv 9.7E-02
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		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: rs61749397
rs61749397 		0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0398642
Disease: Montreal platelet syndrome
Montreal platelet syndrome 		0.010 1.000 1 2009 2009