Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C1868000
Disease:
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
A 0.700 CausalMutation CLINVAR
dbSNP: rs121908587
rs121908587
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C4016331
Disease:
HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB
T 0.700 CausalMutation CLINVAR
dbSNP: rs121908589
rs121908589
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C1868000
Disease:
Polyps, Multiple And Recurrent Inflammatory Fibroid, Gastrointestinal
G 0.700 CausalMutation CLINVAR
dbSNP: rs1553906053
rs1553906053
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
A 0.700 CausalMutation CLINVAR
dbSNP: rs587776793
rs587776793
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR
dbSNP: rs587776794
rs587776794
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
GGAGGGA 0.700 CausalMutation CLINVAR
dbSNP: rs587776795
rs587776795
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR
dbSNP: rs606231209
rs606231209
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
C 0.700 CausalMutation CLINVAR
dbSNP: rs779173667
rs779173667
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0278883
Disease:
Metastatic melanoma
0.700 GeneticVariation UNIPROT
dbSNP: rs1800812
rs1800812
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE Thrombocytopenia was collected with rs1800812 in <i>PDGFRα</i>. 29581831 2018
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0027651
Disease:
Neoplasms
0.060 GeneticVariation BEFREE Tumor sequencing later revealed a PDGFRA D846V mutation that was not identified in the relapse specimen. 30318721 2019
dbSNP: rs778015444
rs778015444
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. 17372901 2007
dbSNP: rs121908587
rs121908587
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0346421
Disease:
Chronic eosinophilic leukemia
0.040 GeneticVariation BEFREE T674I FIP1L1-PDGFRα in a subset of chronic eosinophilic leukemia (CEL) is a gatekeeper mutation that is resistant to many tyrosine kinase inhibitors (TKIs) (e.g., imatinib, nilotinib and dasatinib), similar to T315I Bcr-Abl. 24472312 2014
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE D842V mutant GIST do not show any actionable recurrent molecular events of therapeutic significance, therefore this study supports the rationale of novel TKIs development that are currently being evaluated in clinical studies for the treatment of D842V mutant GIST. 29510530 2018
dbSNP: rs2307049
rs2307049
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0524957
Disease:
Corneal Topography
0.700 GeneticVariation GWASDB A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans. 23401653 2013
dbSNP: rs7660560
rs7660560
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0524957
Disease:
Corneal Topography
0.700 GeneticVariation GWASDB A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans. 23401653 2013
dbSNP: rs7677751
rs7677751
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0524957
Disease:
Corneal Topography
0.700 GeneticVariation GWASDB A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor α gene as a quantitative trait locus for eye size in white Europeans. 23401653 2013
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
T 0.800 CausalMutation CLINVAR A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. 15146165 2004
dbSNP: rs1440200916
rs1440200916
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE A KRAS G12A mutation was found in tumor removed from the finger. 22317887 2012
dbSNP: rs121908586
rs121908586
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE A number of chromosomal loci are likely to be involved in the PDGFRA V561D-dependent tumorigenesis, as shown by CGH and other DNA analyses. 17566086 2007
dbSNP: rs778015444
rs778015444
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
0.010 GeneticVariation BEFREE Activate and resist: L576P-KIT in GIST. 19723893 2009
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0745091
Disease:
Hypereosinophilia
0.010 GeneticVariation BEFREE Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps. 24618081 2014
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
0.800 GeneticVariation BEFREE Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps. 24618081 2014
dbSNP: rs121908585
rs121908585
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0032584
Disease:
polyps
0.010 GeneticVariation BEFREE Activated forms of the platelet derived growth factor receptor alpha (PDGFRα) have been described in various tumors, including FIP1L1-PDGFRα in patients with myeloproliferative diseases associated with hypereosinophilia and the PDGFRα(D842V) mutant in gastrointestinal stromal tumors and inflammatory fibroid polyps. 24618081 2014
dbSNP: rs1800812
rs1800812
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0238463
Disease:
Papillary thyroid carcinoma
0.010 GeneticVariation BEFREE Additionally, by haplotype analysis, the GG and AT haplotypes consisting of rs6554162 and rs1800812 were associated with PTC (GG, p=0.0033; AT, p=0.0270). 22327316 2012