Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
A 0.700 CausalMutation CLINVAR Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. 27306637 2016
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
A 0.700 CausalMutation CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159 2014
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
A 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
A 0.700 CausalMutation CLINVAR Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. 2349939 1990
dbSNP: rs397509370
rs397509370
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
T 0.700 CausalMutation CLINVAR