Source: UNIPROT

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: rs61750071
rs61750071
VWF
0.882 0.080 12 6019298 missense variant G/A;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61749403
rs61749403
VWF
0.882 0.080 12 6019396 missense variant C/A;G;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61754010
rs61754010
VWF
0.882 0.080 12 6057995 missense variant T/C snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 0
dbSNP: rs61748477
rs61748477
VWF
0.925 0.080 12 6044361 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61749398
rs61749398
VWF
0.925 0.080 12 6019448 missense variant C/T snv 8.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61750088
rs61750088
VWF
1.000 0.080 12 6019040 missense variant G/A;C snv 1.6E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs121964894
rs121964894
VWF
0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs372028373
rs372028373
VWF
1.000 0.080 12 6019466 missense variant C/A;T snv 7.2E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61749370
rs61749370
VWF
0.882 0.080 12 6019621 missense variant G/A;T snv 8.0E-04; 2.8E-04
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.800 1.000 20 1991 2012
dbSNP: rs41276738
rs41276738
VWF
0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.810 1.000 0 2004 2004