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: rs61750588
rs61750588
VWF
0.925 0.080 12 6018506 missense variant C/G;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61750590
rs61750590
VWF
0.925 0.080 12 6018476 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61750596
rs61750596
VWF
0.925 0.080 12 6018424 missense variant A/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs61751310
rs61751310
VWF ; ANO2
0.882 0.080 12 5949140 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		0.700 1.000 20 1991 2012
dbSNP: rs63524161
rs63524161
VWF
0.925 0.080 12 6019603 missense variant C/A;G snv
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: rs61754011
rs61754011
VWF
0.882 0.160 12 6057930 missense variant C/T snv
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: 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: 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