Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2900174
rs2900174
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0235974
Disease:
Pancreatic carcinoma 		G 0.800 GeneticVariation GWASCAT Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. 28470677 2017
dbSNP: rs2900174
rs2900174
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0235974
Disease:
Pancreatic carcinoma 		G 0.800 GeneticVariation GWASCAT A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
dbSNP: rs2900174
rs2900174
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0235974
Disease:
Pancreatic carcinoma 		G 0.800 GeneticVariation GWASDB A genome-wide association study of overall survival in pancreatic cancer patients treated with gemcitabine in CALGB 80303. 22142827 2012
dbSNP: rs1442458912
rs1442458912
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.050 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: rs1442458912
rs1442458912
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.050 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: rs1442458912
rs1442458912
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.050 GeneticVariation BEFREE Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 14510954 2003
dbSNP: rs1442458912
rs1442458912
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.050 GeneticVariation BEFREE Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. 11297032 2001
dbSNP: rs1442458912
rs1442458912
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.050 GeneticVariation BEFREE Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. 10227459 1999
dbSNP: rs374100662
rs374100662
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0027051
Disease:
Myocardial Infarction 		0.010 GeneticVariation BEFREE Our results demonstrate no significant differences in the frequency of 1018 C/T and -5 T/C Kozak polymorphism between patients with AMI and controls. 17261793 2006
dbSNP: rs759081917
rs759081917
Entrez Id: 5542;653247
Gene Symbol: PRB1;PRB2
PRB1;PRB2
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		0.010 GeneticVariation BEFREE Homozygous Pro74-->Arg mutation in the platelet glycoprotein Ibbeta gene associated with Bernard-Soulier syndrome. 10928480 2000