Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434414
rs121434414
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.800 GeneticVariation UNIPROT Autozygome and high throughput confirmation of disease genes candidacy. 30237576 2019
dbSNP: rs121434414
rs121434414
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.800 GeneticVariation UNIPROT Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3. 30089812 2018
dbSNP: rs121434414
rs121434414
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		0.800 GeneticVariation UNIPROT A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
dbSNP: rs121434414
rs121434414
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		C 0.800 CausalMutation CLINVAR
dbSNP: rs35094522
rs35094522
Entrez Id: 8985;10467
Gene Symbol: PLOD3;ZNHIT1
PLOD3;ZNHIT1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs917112
rs917112
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C0546837
Disease:
Malignant neoplasm of esophagus 		0.700 GeneticVariation GWASDB Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 21642993 2011
dbSNP: rs748105435
rs748105435
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		C 0.700 GeneticVariation CLINVAR A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. 18834968 2008
dbSNP: rs1562894320
rs1562894320
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs786205872
rs786205872
Entrez Id: 8985
Gene Symbol: PLOD3
PLOD3
CUI: C2676285
Disease:
Bone Fragility with Contractures, Arterial Rupture, and Deafness 		C 0.700 CausalMutation CLINVAR