COL5A2, collagen type V alpha 2 chain, 1290

N. diseases: 139; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs114613161
rs114613161
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs11186
rs11186
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0030567
Disease:
Parkinson Disease 		0.700 GeneticVariation GWASCAT A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland. 26227905 2016
dbSNP: rs1553513657
rs1553513657
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
dbSNP: rs1559085564
rs1559085564
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
dbSNP: rs1559104199
rs1559104199
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		A 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
dbSNP: rs863223491
rs863223491
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4552122
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		T 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
dbSNP: rs1559085564
rs1559085564
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. 22696272 2012
dbSNP: rs1559085564
rs1559085564
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1559085564
rs1559085564
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1559085564
rs1559085564
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993
dbSNP: rs1186550791
rs1186550791
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs121912930
rs121912930
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553512393
rs1553512393
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553513971
rs1553513971
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553514506
rs1553514506
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553515517
rs1553515517
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553517181
rs1553517181
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0002940
Disease:
Aneurysm 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553517181
rs1553517181
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1553517323
rs1553517323
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0241074
Disease:
Hyperextensible skin 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553517323
rs1553517323
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C1844820
Disease:
Range of joint movement increased 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553517323
rs1553517323
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0575157
Disease:
Deformity of spine 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553517323
rs1553517323
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0423113
Disease:
Telecanthus 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1559085578
rs1559085578
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C4538407
Disease:
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 		C 0.700 CausalMutation CLINVAR
dbSNP: rs563606558
rs563606558
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0009782
Disease:
Connective Tissue Diseases 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs770974455
rs770974455
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
CUI: C0002940
Disease:
Aneurysm 		T 0.700 GeneticVariation CLINVAR