Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200750564
rs200750564
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918346
rs121918346
0.020 GeneticVariation BEFREE The phenotypes varied significantly in cases with heterozygous T54A polymorphism, ranging from hypospermatogenesis and maturation arrest to Sertoli cell-only syndrome. 12414900

2002

dbSNP: rs121918346
rs121918346
0.020 GeneticVariation BEFREE Our results show that the T54A polymorphism in DAZL has no major role in Japanese males with azoospermia or oligozoospermia. 16123080

2005

dbSNP: rs104893837
rs104893837
0.010 GeneticVariation BEFREE A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 16968799

2006

dbSNP: rs144848
rs144848
0.010 GeneticVariation BEFREE The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia. 16257105

2006

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE Single nucleotide polymorphism C677T in the methylenetetrahydrofolate reductase gene might be a genetic risk factor for infertility for Chinese men with azoospermia or severe oligozoospermia. 16888682

2007

dbSNP: rs2228000
rs2228000
XPC
0.010 GeneticVariation BEFREE Increased risk of idiopathic azoospermia, but not oligozoospermia was associated with the XPC variant genotypes of Ala499Val (C>T) [adjusted odds ratio (OR) = 1.67, 95% confidence interval (CI) = 1.04-2.68 for CT heterozygote and adjusted OR = 2.03, 95% CI = 1.10-3.75 for TT homozygote] compared with CC homozygous wide-type. 18067564

2009

dbSNP: rs2075789
rs2075789
0.020 GeneticVariation BEFREE The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. 19808033

2010

dbSNP: rs6166
rs6166
0.020 GeneticVariation BEFREE In the present study, the common G-29A, A919G, and A2039G polymorphisms in the FSHR gene were analysed in 150 (36 non-obstructive azoospermia and 114 individuals with oligozoospermia) patients and 208 normozoospermic men. 20170288

2010

dbSNP: rs11703684
rs11703684
0.010 GeneticVariation BEFREE The variant-containing genotypes of HIWI2 rs508485 exhibited a significantly increased risk, with an odds ratios (OR) of 1.49 [95% confidence interval (CI), 1.02-2.18], and individuals with HIWI3 non-synonymous rs11703684 variant genotypes exhibited a significantly reduced oligozoospermia risk (OR = 0.70; 95% CI, 0.49-1.00). 20940137

2010

dbSNP: rs175080
rs175080
0.010 GeneticVariation BEFREE The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia. 19808033

2010

dbSNP: rs508485
rs508485
0.010 GeneticVariation BEFREE The variant-containing genotypes of HIWI2 rs508485 exhibited a significantly increased risk, with an odds ratios (OR) of 1.49 [95% confidence interval (CI), 1.02-2.18], and individuals with HIWI3 non-synonymous rs11703684 variant genotypes exhibited a significantly reduced oligozoospermia risk (OR = 0.70; 95% CI, 0.49-1.00). 20940137

2010

dbSNP: rs1217691063
rs1217691063
0.040 GeneticVariation BEFREE The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive azoospermia (NOA) or severe oligozoospermia and fertile Brazilian men as controls to explore the possible association of these polymorphisms and male infertility. 21138341

2011

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive azoospermia (NOA) or severe oligozoospermia and fertile Brazilian men as controls to explore the possible association of these polymorphisms and male infertility. 21138341

2011

dbSNP: rs6166
rs6166
0.020 GeneticVariation BEFREE In this study, we have evaluated the response of FSH treatment in terms of sperm production on the basis of Ala307Thr-Asn680Ser polymorphisms in the FSHR gene in a group of oligozoospermic subjects with hypospermatogenesis and normal FSH levels. 20569270

2011

dbSNP: rs6165
rs6165
0.010 GeneticVariation BEFREE In this study, we have evaluated the response of FSH treatment in terms of sperm production on the basis of Ala307Thr-Asn680Ser polymorphisms in the FSHR gene in a group of oligozoospermic subjects with hypospermatogenesis and normal FSH levels. 20569270

2011

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

2012

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE However, the homozygous (C/C) A1298C polymorphism of the MTHFR gene was present at a statistically high significance in severe oligozoospermia group compared with controls (OR = 3.372, 95% confidence interval CI = 1.27-8.238; p = 0.01431). 22457816

2012

dbSNP: rs2075789
rs2075789
0.020 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: rs4647269
rs4647269
0.020 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: rs1042064
rs1042064
0.010 GeneticVariation BEFREE Our results demonstrated that rs1042064 of EPHX2 was significantly associated with decreased risk of oligozoospermia (OR=0.65, 95% CI: 0.44-0.98) and asthenospermia (OR=0.66, 95% CI: 0.46-0.94). 22986331

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: 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