Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769642496
rs769642496
0.010 GeneticVariation BEFREE 1) A novel variant in exon 1 (p.Pro130Leu) that disrupted a mammalian specific polyproline stretch in the self-association domain was more frequent in azoospermia cases (0.27% vs 0.13%, p = 0.549). 25451826

2015

dbSNP: rs201438485
rs201438485
0.010 GeneticVariation BEFREE A 46,XY female with complete gonadal dysgenesis carried a p.K320R mutation in the highly conserved NAP domain, and a 46,XY male with idiopathic azoospermia harbored a p.R89H mutation, and this data supports the hypothesis that mutations in TSPYL1 may contribute to anomalies of testicular development/function. 19463995

2009

dbSNP: rs10842262
rs10842262
0.700 GeneticVariation GWASCAT A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. 22197933

2011

dbSNP: rs12097821
rs12097821
0.700 GeneticVariation GWASCAT A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. 22197933

2011

dbSNP: rs2477686
rs2477686
0.700 GeneticVariation GWASCAT A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. 22197933

2011

dbSNP: rs6080550
rs6080550
0.700 GeneticVariation GWASCAT A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. 22197933

2011

dbSNP: rs10129954
rs10129954
0.010 GeneticVariation BEFREE Also, a statistically significant association between rs10129954 and azoospermia, and oligozoospermia was observed. 28975488

2018

dbSNP: rs222859
rs222859
0.010 GeneticVariation BEFREE Association of G/T(rs222859) polymorphism in Exon 1 of YBX2 gene with azoospermia, among Iranian infertile males. 26804374

2016

dbSNP: rs11204546
rs11204546
0.010 GeneticVariation BEFREE Clinically, the SNPs (rs11204546 of OR2W3 and rs11677854 of GTF2A1L ) might be additional valuable molecular predictive markers for assessing the treatment of NOA patients. 25374392

2015

dbSNP: rs11677854
rs11677854
0.010 GeneticVariation BEFREE Clinically, the SNPs (rs11204546 of OR2W3 and rs11677854 of GTF2A1L ) might be additional valuable molecular predictive markers for assessing the treatment of NOA patients. 25374392

2015

dbSNP: rs2207396
rs2207396
0.010 GeneticVariation BEFREE Compared with those with the GG genotype, patients being heterozygous for the A allele in rs2207396 had a significantly increased risk of azoospermia [odds ratio (OR): 3.8; 95% confidence interval: 1.5-9.5; P=0.008], this OR being even higher in the subgroup treated with alkylating drugs (OR: 8.8; 95% confidence interval: 2.1-36; P=0.004). 21430602

2011

dbSNP: rs1800477
rs1800477
0.010 GeneticVariation BEFREE Considering the decreased antiapoptotic function of BCL2, these results suggest that the Ala43Thr variant is associated with protection against azoospermia in the Han-Chinese population. 20610805

2010

dbSNP: rs25487
rs25487
0.020 GeneticVariation BEFREE In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia. 17968463

2007

dbSNP: rs1799782
rs1799782
0.010 GeneticVariation BEFREE In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia. 17968463

2007

dbSNP: rs25487
rs25487
0.020 GeneticVariation BEFREE In conclusion, the SNP locus rs25487 of XRCC1 could be a marker for genetic susceptibility to idiopathic azoospermia and the A allele might be a risk gene of idiopathic azoospermia in the northern Chinese Han population. 22868082

2012

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE In conclusion, this meta-analysis is in favor that the MTHFR C677T polymorphism is capable of causing male infertility susceptibility, especially in Asians and the subgroup of azoospermia. 26584688

2016

dbSNP: rs397507444
rs397507444
0.020 GeneticVariation BEFREE In conclusion, this meta-analysis supports that the MTHFR A1298C polymorphism is capable of causing male infertility susceptibility, especially azoospermia. 22175540

2012

dbSNP: rs9340958
rs9340958
0.010 GeneticVariation BEFREE In ERα, markers of one specific haplotype block (rs2207396, rs9340958, rs9340978) were associated with an increased risk of azoospermia. 21430602

2011

dbSNP: rs9340978
rs9340978
0.010 GeneticVariation BEFREE In ERα, markers of one specific haplotype block (rs2207396, rs9340958, rs9340978) were associated with an increased risk of azoospermia. 21430602

2011

dbSNP: rs11614913
rs11614913
0.010 GeneticVariation BEFREE In following stratified analysis, we found that rs11614913 exhibited a significantly higher risk of asthenospermia, oligozoospermia and azoospermia. 26805933

2016

dbSNP: rs1799983
rs1799983
0.020 GeneticVariation BEFREE In this study, the polymorphic distributions of three common polymorphism loci including T-786C, 4A4B and G894T in eNOS gene were investigated in 355 Chinese infertile patients with azoospermia or oligozoospermia and 246 healthy fertile men and a meta-analysis was carried in order to explore the possible relationship between the three loci of eNOS gene and male infertility with spermatogenesis impairment. 23756085

2013

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE Influence of methylenetetrahydrofolate reductase C677T gene polymorphisms in Algerian infertile men with azoospermia or severe oligozoospermia. 22928696

2012

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE Meta-analysis revealed an association by use of fixed-effects model of MTHFR C677T with the risk of azoospermia. 24268703

2014

dbSNP: rs777919630
rs777919630
CBS
0.010 GeneticVariation BEFREE Meta-analysis revealed an association by use of fixed-effects model of MTHFR C677T with the risk of azoospermia. 24268703

2014

dbSNP: rs11531577
rs11531577
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