Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs759081917
rs759081917
PRB1 ; PRB2
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.010 GeneticVariation BEFREE Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. 10928480

2000