COL3A1, collagen type III alpha 1 chain, 1281

N. diseases: 301; N. variants: 402
Disease: Ehlers-Danlos Syndrome, Type IV ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912927
rs121912927
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. 7912131 1994
dbSNP: rs121912927
rs121912927
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. 7749417 1995
dbSNP: rs121912927
rs121912927
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. 8411057 1993