C7, complement C7, 730

N. diseases: 16; N. variants: 11
Disease: Complement Component 7 Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes. 9856499 1998
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		0.800 GeneticVariation UNIPROT Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies. 8871666 1996
dbSNP: rs121964920
rs121964920
Entrez Id: 730
Gene Symbol: C7
C7
CUI: C1864694
Disease:
Complement Component 7 Deficiency 		A 0.800 CausalMutation CLINVAR