CD46, CD46 molecule, 4179

N. diseases: 258; N. variants: 21
Disease: Atypical Hemolytic Uremic Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1027208016
rs1027208016
Entrez Id: 4179
Gene Symbol: CD46
CD46
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.010 GeneticVariation BEFREE The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7. 20108004 2010