rs72645347, COL1A1

N. diseases: 10
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Lymphoproliferative Syndrome Type 2B
CUI: C1846545
Disease: Autoimmune Lymphoproliferative Syndrome Type 2B
0.010 GeneticVariation BEFREE These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. 28102596 2017