C2, complement C2, 717

N. diseases: 71; N. variants: 39
Disease: Glycogen storage disease type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332739
rs9332739
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.010 GeneticVariation BEFREE The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low. 22273503 2012