MIR3606, microRNA 3606, 100500837

N. diseases: 1; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912928
rs121912928
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779476
rs587779476
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779523
rs587779523
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779584
rs587779584
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779637
rs587779637
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs587779679
rs587779679
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121912928
rs121912928
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779476
rs587779476
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779523
rs587779523
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779584
rs587779584
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs587779584
rs587779584
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779637
rs587779637
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs587779679
rs587779679
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121912928
rs121912928
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs121912928
rs121912928
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs121912928
rs121912928
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs587779476
rs587779476
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs587779476
rs587779476
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs587779476
rs587779476
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838 2014
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340 2014
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs587779489
rs587779489
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014