C1QA, complement C1q A chain, 712

N. diseases: 88; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs292001
rs292001
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE The study has shown that the rs292001 C1q but not the rs11003125 MBL2 SNP are associated with increased risk for T2D susceptibility in the Cretan population. 23602874 2013
dbSNP: rs121909581
rs121909581
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C3150902
Disease:
C1q DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs34139950
rs34139950
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C3150902
Disease:
C1q DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs172378
rs172378
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE Our study results show that rs172378 is linked to a cis-regulatory element affecting gene expression and that allelic preferential expression is altered in tumour samples, but do not support an association between genetic variation in C1QA and breast cancer survival. 20332777 2010
dbSNP: rs172378
rs172378
Entrez Id: 712
Gene Symbol: C1QA
C1QA
CUI: C0678222
Disease:
Breast Carcinoma 		0.020 GeneticVariation BEFREE There was no statistical difference in the C1qA[276A/G] allelic distribution between all subjects with breast cancer and controls. 16465510 2006