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: rs61749384
rs61749384 		0.882 0.080 12 6019502 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1991 2019
dbSNP: rs61749387
rs61749387 		0.882 0.080 12 6019496 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 21 1991 2013
dbSNP: rs61750072
rs61750072 		0.925 0.080 12 6019297 missense variant C/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1991 2019
dbSNP: rs267607342
rs267607342 		1.000 0.080 12 6018799 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748476
rs61748476 		1.000 0.080 12 6044370 missense variant C/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748497
rs61748497 		0.851 0.080 12 6025624 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749371
rs61749371 		1.000 0.080 12 6019616 missense variant G/A;C;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749372
rs61749372 		0.925 0.080 12 6019604 missense variant A/C;G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749392
rs61749392 		0.925 0.080 12 6019479 missense variant C/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749393
rs61749393 		0.925 0.080 12 6019478 missense variant C/A;G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750089
rs61750089 		1.000 0.080 12 6019036 missense variant G/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750101
rs61750101 		0.925 0.080 12 6018877 missense variant A/C snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750577
rs61750577 		0.925 0.080 12 6018628 missense variant C/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750579
rs61750579 		0.925 0.080 12 6018598 missense variant A/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750581
rs61750581 		0.925 0.080 12 6018581 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750584
rs61750584 		0.882 0.080 12 6018535 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750588
rs61750588 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750590
rs61750590 		0.925 0.080 12 6018476 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750596
rs61750596 		0.925 0.080 12 6018424 missense variant A/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61751310
rs61751310 		0.882 0.080 12 5949140 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs63524161
rs63524161 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs1555198839
rs1555198839 		12 6062953 splice donor variant C/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1987 2015
dbSNP: rs61750584
rs61750584 		0.882 0.080 12 6018535 missense variant A/G snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1991 2019
dbSNP: rs121964895
rs121964895 		0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.750 1.000 6 2006 2019
dbSNP: rs61750630
rs61750630 		0.925 0.080 12 5981988 missense variant C/A snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.060 1.000 6 2000 2015