RFX2, regulatory factor X2, 5990

N. diseases: 7; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs505401
rs505401
Entrez Id: 5990;100128568
Gene Symbol: RFX2;LOC100128568
RFX2;LOC100128568
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs748493309
rs748493309
Entrez Id: 5990
Gene Symbol: RFX2
RFX2
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs2288846
rs2288846
Entrez Id: 5990
Gene Symbol: RFX2
RFX2
CUI: C0021364
Disease:
Male infertility 		0.010 GeneticVariation BEFREE The aim of this study was to explore the association between the SNP rs4045481 in RNF212 gene, rs1050482 and rs11531577 in STAG3 gene as well as rs2288846 in RFX2 gene and male infertility with azoospermia in Chinese population. 29277047 2018
dbSNP: rs2288846
rs2288846
Entrez Id: 5990
Gene Symbol: RFX2
RFX2
CUI: C0004509
Disease:
Azoospermia 		0.010 GeneticVariation BEFREE No significant differences in allele and genotype frequencies of SNP rs1050482 and rs11531577 in STAG3 gene as well as rs2288846 in RFX2 gene between patients with azoospermia and controls were observed. 29277047 2018