rs72645347, COL1A1

N. diseases: 10
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: 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
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 GeneticVariation UNIPROT Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762 2000