Source: ALL

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: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.800 1.000 21 1991 2019
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B 		0.770 0.857 7 2001 2019
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		0.740 1.000 5 2010 2019
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.030 1.000 3 2010 2017
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		0.020 1.000 2 2013 2017
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.020 1.000 2 2013 2018
dbSNP: rs61749397
rs61749397
VWF
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: rs61749397
rs61749397
VWF
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
dbSNP: rs61749397
rs61749397
VWF
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 1.000 1 2016 2016