Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 GeneticVariation UNIPROT COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. 18972565

2009
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 GeneticVariation UNIPROT The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. 15580559

2005
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 GeneticVariation UNIPROT Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. 11992482

2002
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 GeneticVariation UNIPROT Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? 10602121

2000
dbSNP: rs80338764
rs80338764
COL5A1 ; LOC101448202
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.800 GeneticVariation UNIPROT Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913

1997
dbSNP: rs61735045
rs61735045
COL5A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 GeneticVariation UNIPROT

dbSNP: rs72645347
rs72645347
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 GeneticVariation UNIPROT Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 17211858

2007
dbSNP: rs72645347
rs72645347
COL1A1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 		0.700 GeneticVariation UNIPROT Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762

2000