Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1059060
rs1059060
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs1248142939
rs1248142939
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs140756663
rs140756663
0.010 GeneticVariation BEFREE Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. 22137496

2012

dbSNP: rs17420802
rs17420802
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs188541504
rs188541504
0.010 GeneticVariation BEFREE These results indicated that the polymorphism -9C>T and 368A>G in H2BFWT gene are associated with male infertility with idiopathic azoospermia or oligozoospermia, suggesting that H2BFWT gene might be contribute to susceptibility to spermatogenesis impairment in Chinese population. 22509975

2012

dbSNP: rs2070565
rs2070565
0.010 GeneticVariation BEFREE These results indicated that SNP rs2070565, as well as haplotypes AAA and GAA, may be associated with male infertility and suggest that DNMT3L may contribute to azoospermia susceptibility in humans. 22116073

2012

dbSNP: rs370116569
rs370116569
0.010 GeneticVariation BEFREE Two potentially disease-causing variants were detected in the infertile cohort: one man with azoospermia was found to be heterozygous for the novel TSPYL1 variant c.419C>G (p.Ser140Cys), and the rare substitution c.1098C>A (p.Phe366Leu) was identified in a man with OAT syndrome in the heterozygous state. 22137496

2012

dbSNP: rs4647269
rs4647269
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs553509
rs553509
0.010 GeneticVariation BEFREE These results indicated that the polymorphism -9C>T and 368A>G in H2BFWT gene are associated with male infertility with idiopathic azoospermia or oligozoospermia, suggesting that H2BFWT gene might be contribute to susceptibility to spermatogenesis impairment in Chinese population. 22509975

2012

dbSNP: rs587781908
rs587781908
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs763468927
rs763468927
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs786203623
rs786203623
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

dbSNP: rs864622096
rs864622096
0.010 GeneticVariation BEFREE One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and MSH5 (rs2075789, Pro29Ser) seem to be risk factors for the development of azoospermia or oligozoospermia. 22594646

2012

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: rs397507444
rs397507444
0.020 GeneticVariation BEFREE Pooled estimate on c.1298A>C data from all published studies including our data showed no association of this polymorphism with male infertility (Odds ratio = 1.035, P = 0.56), azoospermia (Odds ratio = 0.97, P = 0.74), or oligoasthenoteratozoospermia (Odds ratio = 0.92, p = 0.29). 23874907

2013

dbSNP: rs10269148
rs10269148
0.010 GeneticVariation BEFREE The genetic variant rs10269148 of STRA8 gene showed higher risk of spermatogenic impairment in the groups of abnormospermia (including azoospermia subgroup and oligozoospermia subgroup) and azoospermia than the controls with odds ratios and 95% confidence intervals of 2.52 (1.29-4.94) and 2.92 (1.41-6.06), respectively (P = 0.006, 0.002 respective). 23320086

2013

dbSNP: rs4474514
rs4474514
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421

2013

dbSNP: rs995030
rs995030
0.010 GeneticVariation BEFREE To explore the possible association of KIT and KITLG genes with male infertility having spermatogenesis impairment, polymorphism distributions of SNP rs3819392 in KIT gene as well as rs995030 and rs4474514 in KITLG gene were investigated in 372 patients with idiopathic azoospermia or oligospermia and 205 fertile controls. 24083421

2013

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: rs1136410
rs1136410
0.010 GeneticVariation BEFREE The polymorphic distributions of SNP rs1136410 and rS1805405 were investigated by polymerase chain reaction and restriction fragment length polymorphism analysis in a Chinese cohort including 371 infertile patients with idiopathic azoospermia or oligospermia and 231 controls. 25106941

2014

dbSNP: rs2228611
rs2228611
0.010 GeneticVariation BEFREE To explore the relationship between DNMT1 and spermatogenesis impairment, polymorphic distributions of single-nucleotide polymorphisms (SNP) rs16999593, rs2228612 and rs2228611 in DNMT1 were investigated in 342 infertile patients with idiopathic azoospermia or oligospermia and 232 fertile controls in a Chinese population. 24631383

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: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE Our meta-analysis showed that the MTHFR C677T mutation was a risk factor for male infertility in both azoospermia and oligoasthenoteratozoospermia patients, especially in Asian population. 26549413

2015