rs760277934, C1R

N. diseases: 2
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
0.800 GeneticVariation UNIPROT Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. 27745832 2016
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
CUI: C4551499
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
0.800 CausalMutation CLINVAR