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: rs547154
rs547154
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.020 GeneticVariation BEFREE The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003). 23260260 2013
dbSNP: rs547154
rs547154
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.020 GeneticVariation BEFREE The risk allele frequencies for rs547154 in C2 were 6.54% and 8.12% in AMD patients and controls. 22273503 2012