Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Diverse CD36 expression among Japanese population: defective CD36 mutations cause platelet and monocyte CD36 reductions in not only deficient but also normal phenotype subjects. 25798958

2015
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Variants of CD36 gene and their association with CD36 protein expression in platelets. 24960640

2014
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Free fatty acid uptake in humans with CD36 deficiency. 24917573

2014
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians. 15282206

2004
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency. 11950861

2002
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Association of the Pro90Ser CD36 mutation with elevated free fatty acid concentrations but not with insulin resistance syndrome in Japanese. 11718687

2001
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol. 10946357

2000
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Phenotype-genotype correlation in CD36 deficiency types I and II. 11019968

2000
dbSNP: rs75326924
rs75326924
CD36
T 0.700 CausalMutation CLINVAR Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency. 7533783

1995
dbSNP: rs61749397
rs61749397
VWF
0.020 GeneticVariation BEFREE Clinical history, hemostasis results, and gene analysis revealed von Willebrand disease (VWD) type 2B with the mutation (c.3946G>A; p.V1316M), which combines a von Willebrand factor defect with severe thrombocytopenia, as well as a thrombocytopathy. 27885890

2017
dbSNP: rs61749397
rs61749397
VWF
0.020 GeneticVariation BEFREE These data indicate that the vWD-type 2B mutation p.V1316M is associated with severe thrombocytopathy, which likely contributes to the bleeding tendency in vWD-type 2B. 24270421

2013
dbSNP: rs5030764
rs5030764
GP9
0.010 GeneticVariation BEFREE Bernard Soulier Syndrome (BSS) is an inherited rare platelet disorder characterized by mutations in the platelet glycoprotein complex GPIb-IX-V. We generated an induced pluripotent stem cell (iPSC) line from a BSS patient with a mutation p.Asn45Ser in the GPIX locus (BSS2-PBMC-iPS4F24). 27934591

2016
dbSNP: rs757006129
rs757006129
CHRNE ; GP1BA
0.010 GeneticVariation BEFREE Our data show that the R307H SNP is significantly associated with the degree of thrombocytopenia in congenital and acquired platelet disorders, and may affect platelets by altering microtubule behavior. 25529050

2015
dbSNP: rs121909750
rs121909750
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
0.010 GeneticVariation BEFREE Five individuals from Family II, four of whom reported elsewhere as having giant platelet disorders with normal aggregation (BLOOD, 1997: 89: 2404) and one newly analyzed in this study, were heterozygous for Tyr88Cys in the GPIbbeta gene. 11816714

2001