Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519811
rs1057519811
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
T 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921 2013
dbSNP: rs1057519812
rs1057519812
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
C 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921 2013
dbSNP: rs1057519813
rs1057519813
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
A 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921 2013
dbSNP: rs1057519814
rs1057519814
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
T 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921 2013
dbSNP: rs763576329
rs763576329
Entrez Id: 5156
Gene Symbol: PDGFRA
PDGFRA
CUI: C0025202
Disease:
melanoma
A 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921 2013
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