VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1012488531
rs1012488531
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.030 GeneticVariation BEFREE Haplotype analysis revealed that the family had the same disease haplotype associated with the GPIX N45S commonly found in Northern European BSS. 17804902 2007
dbSNP: rs1012488531
rs1012488531
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.030 GeneticVariation BEFREE Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 15609295 2005
dbSNP: rs1012488531
rs1012488531
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.030 GeneticVariation BEFREE Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 14510954 2003
dbSNP: rs1305880207
rs1305880207
Entrez Id: 7450
Gene Symbol: VWF
VWF
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.010 GeneticVariation BEFREE Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. 10583255 1999