Gene: COL1A1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645347
rs72645347
COL1A1
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
0.700 GeneticVariation UNIPROT Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. 10739762

2000