C3, complement C3, 718

N. diseases: 343; N. variants: 49
Disease: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1449441916
rs1449441916
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease:
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation UNIPROT Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. 7961791 1994
dbSNP: rs1568229677
rs1568229677
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C3151071
Disease:
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR