Gene: COL3A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521106
rs1057521106
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524653
rs1057524653
COL3A1 ; MIR3606
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500187
rs1060500187
COL3A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500193
rs1060500193
COL3A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
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
COL3A1 ; MIR3606
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
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1060500199
rs1060500199
COL3A1 ; MIR3606
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500203
rs1060500203
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500204
rs1060500204
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307896
rs1085307896
COL3A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs111505097
rs111505097
COL3A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs111505097
rs111505097
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs111929073
rs111929073
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs111929073
rs111929073
COL3A1
T 0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs111929073
rs111929073
COL3A1
T 0.700 GeneticVariation CLINVAR Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery. 17122455

2006
dbSNP: rs112371422
rs112371422
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs112456072
rs112456072
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs112532745
rs112532745
COL3A1
T 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs113485686
rs113485686
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs113871730
rs113871730
COL3A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912913
rs121912913
COL3A1
T 0.800 CausalMutation CLINVAR