rs121964920, C7

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Complement Component 7 Deficiency
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
Complement Component 7 Deficiency
CUI: C1864694
Disease: Complement Component 7 Deficiency
0.800 GeneticVariation UNIPROT Molecular bases of C7 deficiency: three different defects. 9218625 1997
Complement Component 7 Deficiency
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
Complement Component 7 Deficiency
CUI: C1864694
Disease: Complement Component 7 Deficiency
0.800 CausalMutation CLINVAR
C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
CUI: C4017564
Disease: C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
0.700 CausalMutation CLINVAR