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: rs121912914
rs121912914
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		0.800 GeneticVariation UNIPROT Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. 2808425 1989
dbSNP: rs121912914
rs121912914
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121912914
rs121912914
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
CUI: C0268338
Disease:
Ehlers-Danlos Syndrome, Type IV 		T 0.800 CausalMutation CLINVAR