Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
C 0.700 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994 2015
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
C 0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
C 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236 2009
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
C 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699 1994
dbSNP: rs1060500194
rs1060500194
Entrez Id: 1281;100500837
Gene Symbol: COL3A1;MIR3606
COL3A1;MIR3606
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV
C 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237 1993