C1R, complement C1r, 715

N. diseases: 96; N. variants: 18
Disease: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769707492
rs769707492
Entrez Id: 715
Gene Symbol: C1R
C1R
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
dbSNP: rs769707492
rs769707492
Entrez Id: 715
Gene Symbol: C1R
C1R
CUI: C4551499
Disease:
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 		C 0.800 CausalMutation CLINVAR