Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224946
rs863224946
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4225270
Disease:
Kosaki overgrowth syndrome 		C 0.830 CausalMutation CLINVAR
dbSNP: rs863224946
rs863224946
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4225270
Disease:
Kosaki overgrowth syndrome 		0.830 GeneticVariation UNIPROT
dbSNP: rs144050370
rs144050370
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease:
MYOFIBROMATOSIS, INFANTILE, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs144050370
rs144050370
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease:
MYOFIBROMATOSIS, INFANTILE, 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs1554108211
rs1554108211
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C1866182
Disease:
Penttinen-Aula syndrome 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397509381
rs397509381
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C3554321
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397509382
rs397509382
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C3554321
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1060499542
rs1060499542
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0020255
Disease:
Hydrocephalus 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1060499542
rs1060499542
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease:
MYOFIBROMATOSIS, INFANTILE, 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C1720037
Disease:
Supranuclear gaze palsy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0233715
Disease:
Speech impairment 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0575090
Disease:
Equilibration disorder 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0040822
Disease:
Tremor 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C3554321
Disease:
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0008301
Disease:
Choking 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0235162
Disease:
Difficulty sleeping 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs138008832
rs138008832
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0262477
Disease:
Eye problem 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554108389
rs1554108389
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0206648
Disease:
Myofibromatosis 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554108389
rs1554108389
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease:
MYOFIBROMATOSIS, INFANTILE, 1 		C 0.700 CausalMutation CLINVAR
dbSNP: rs397509381
rs397509381
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4324314
Disease:
Primary familial brain calcification 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397509382
rs397509382
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4324314
Disease:
Primary familial brain calcification 		A 0.700 CausalMutation CLINVAR
dbSNP: rs864309711
rs864309711
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C4551572
Disease:
MYOFIBROMATOSIS, INFANTILE, 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs3756311
rs3756311
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE The genotype and haplotype frequencies of 3 of the 6 SNPs [SNP1 (g.-1924T>C, rs3756314), SNP3 (g.-1772A>G, rs3756312) and SNP4 (rs3756311, g.-1658G>A)] were significantly associated with SCZ [SNP1, corrected p=0.012 (co-dominant model), 0.002 (Dominant model), and 0.506 (Recessive model); SNP3 and 4, corrected p=0.003, 0.009, and 0.049]. 18541413 2008
dbSNP: rs3756312
rs3756312
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE The genotype and haplotype frequencies of 3 of the 6 SNPs [SNP1 (g.-1924T>C, rs3756314), SNP3 (g.-1772A>G, rs3756312) and SNP4 (rs3756311, g.-1658G>A)] were significantly associated with SCZ [SNP1, corrected p=0.012 (co-dominant model), 0.002 (Dominant model), and 0.506 (Recessive model); SNP3 and 4, corrected p=0.003, 0.009, and 0.049]. 18541413 2008
dbSNP: rs3756314
rs3756314
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
CUI: C0036341
Disease:
Schizophrenia 		0.010 GeneticVariation BEFREE The genotype and haplotype frequencies of 3 of the 6 SNPs [SNP1 (g.-1924T>C, rs3756314), SNP3 (g.-1772A>G, rs3756312) and SNP4 (rs3756311, g.-1658G>A)] were significantly associated with SCZ [SNP1, corrected p=0.012 (co-dominant model), 0.002 (Dominant model), and 0.506 (Recessive model); SNP3 and 4, corrected p=0.003, 0.009, and 0.049]. 18541413 2008