Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1150757
rs1150757
A 0.700 GeneticVariation GWASCAT A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. 29769526

2018

dbSNP: rs28383224
rs28383224
A 0.700 GeneticVariation GWASCAT A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. 29769526

2018

dbSNP: rs117026326
rs117026326
0.020 GeneticVariation BEFREE In conclusion, the T allele of rs117026326 was associated with susceptibility to neuromyelitis optica spectrum disorders, and the CC genotype of rs73366469 conferred susceptibility to AQP4-IgG-seropositivity in Han Chinese patients. 30531019

2019

dbSNP: rs117026326
rs117026326
0.020 GeneticVariation BEFREE We observed a significant genetic association between the variant rs117026326</span> and NMOSD (P = 1.09 × 10<sup>-11</sup>, OR = 2.535), however, the association with MS was not significant (P = .4289, OR = 1.129). 31520790

2019

dbSNP: rs1800693
rs1800693
0.020 GeneticVariation BEFREE Among the 35 SNPs, only one, rs1800693 in the TNFRSF1A locus, was nominally associated with NMO (P = 0.045, OR = 1.550, 95% CI = 1.007-2.384). 24927785

2014

dbSNP: rs1800693
rs1800693
0.020 GeneticVariation BEFREE Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO. 22994200

2013

dbSNP: rs2300747
rs2300747
0.020 GeneticVariation BEFREE Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. 24655566

2014

dbSNP: rs2300747
rs2300747
0.020 GeneticVariation BEFREE Five SNPs were significantly associated with an increased risk of NMOSD (rs2300747, rs1335532, rs56302466, rs1016140, and rs12044852). 28601281

2017

dbSNP: rs1016140
rs1016140
0.010 GeneticVariation BEFREE Also, we deduced that the G allele of rs1016140 caused an increase of T cell activity, which in turn eased the access of AQP4 antibody into central nervous system (CNS) and ultimately leading to NMO development. 24655566

2014

dbSNP: rs10168266
rs10168266
0.010 GeneticVariation BEFREE After correcting for multiple test comparisons, the minor alleles of four STAT4 SNPs exhibited significant association with increased risk of NMOSD (rs7574865 T, odds ratio [OR] = 1.66, 95% confidence interval [CI] 1.32-2.08, P <sub>corr</sub> = 0.000; rs10181656 G, OR = 1.62, 95% CI 1.29-2.03, P <sub>corr</sub> = 0.000; rs10168266 T, OR = 1.59, 95% CI 1.27-2.00, P <sub>corr</sub> = 0.001; and rs13426947 A, OR = 1.51, 95% CI 1.21-1.90, P <sub>corr</sub> = 0.004). 28852993

2017

dbSNP: rs10181656
rs10181656
0.010 GeneticVariation BEFREE After correcting for multiple test comparisons, the minor alleles of four STAT4 SNPs exhibited significant association with increased risk of NMOSD (rs7574865 T, odds ratio [OR] = 1.66, 95% confidence interval [CI] 1.32-2.08, P <sub>corr</sub> = 0.000; rs10181656 G, OR = 1.62, 95% CI 1.29-2.03, P <sub>corr</sub> = 0.000; rs10168266 T, OR = 1.59, 95% CI 1.27-2.00, P <sub>corr</sub> = 0.001; and rs13426947 A, OR = 1.51, 95% CI 1.21-1.90, P <sub>corr</sub> = 0.004). 28852993

2017

dbSNP: rs10876994
rs10876994
0.010 GeneticVariation BEFREE We found that the frequencies of the A allele of rs703842 were higher in MS patients than controls (p=0.032), and statistical differences were observed in the genotypes of both rs703842 (p=0.013) and rs10876994 (p=0.001) between NMO patients and controls. 25542806

2015

dbSNP: rs12044852
rs12044852
0.010 GeneticVariation BEFREE Five SNPs were significantly associated with an increased risk of NMOSD (rs2300747, rs1335532, rs56302466, rs1016140, and rs12044852). 28601281

2017

dbSNP: rs12288280
rs12288280
CD6
0.010 GeneticVariation BEFREE Logistic analyses revealed that one SNP in CD6 (rs12288280, P = 0.04) and three SNPs in TNFRSF1A (rs767455, rs4149577 and rs1800693, P = 0.01-0.03) were associated with NMO. 22994200

2013

dbSNP: rs1234315
rs1234315
0.010 GeneticVariation BEFREE To evaluate whether TNFSF4 polymorphisms contribute to risk of NMOSD, four single-nucleotide polymorphisms (SNPs) (rs1234315, rs2205960, rs704840, and rs844648) were selected and genotyped in a cohort of 312 patients with NMOSD and 487 healthy controls. 29032462

2017

dbSNP: rs13426947
rs13426947
0.010 GeneticVariation BEFREE After correcting for multiple test comparisons, the minor alleles of four STAT4 SNPs exhibited significant association with increased risk of NMOSD (rs7574865 T, odds ratio [OR] = 1.66, 95% confidence interval [CI] 1.32-2.08, P <sub>corr</sub> = 0.000; rs10181656 G, OR = 1.62, 95% CI 1.29-2.03, P <sub>corr</sub> = 0.000; rs10168266 T, OR = 1.59, 95% CI 1.27-2.00, P <sub>corr</sub> = 0.001; and rs13426947 A, OR = 1.51, 95% CI 1.21-1.90, P <sub>corr</sub> = 0.004). 28852993

2017

dbSNP: rs1411751
rs1411751
0.010 GeneticVariation BEFREE In a subgroup analysis, rs1411751 was found to be associated with NMO (OR=0.36, P(corr)=0.03), and rs9523762 was marginally associated with both NMO and MS. 24135429

2013

dbSNP: rs150587304
rs150587304
0.010 GeneticVariation BEFREE In 3 patients with NMO (2 related), we detected 2 different missense allelic mutations at Arg19 (R19I and R19T). 21900637

2011

dbSNP: rs1520333
rs1520333
0.010 GeneticVariation BEFREE The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. 26608987

2015

dbSNP: rs1883832
rs1883832
0.010 GeneticVariation BEFREE Other three SNPs showed protections on NMOSD in dominant models (rs6074022, OR = 0.64, 95 % CI 0.42-0.95, P = 0.031; rs1883832, OR = 0.65, 95 % CI 0.43-0.97, P = 0.036; and rs4810485, OR = 0.63, 95 % CI 0.42-0.95, P = 0.029, respectively), but not significantly after Bonferroni corrections for multiple tests. 27578014

2017

dbSNP: rs2075575
rs2075575
0.010 GeneticVariation BEFREE These findings suggest that the T allele of rs2075575 is a risk for AQP4-Ab-positive NMO. 27012886

2016

dbSNP: rs2282284
rs2282284
0.010 GeneticVariation BEFREE The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population. 26402798

2015

dbSNP: rs2887502
rs2887502
0.010 GeneticVariation BEFREE And the genotypic differences of IL-7 rs2887502 between MS and NMO indicated the different genetic backgrounds of these two diseases. 26608987

2015

dbSNP: rs3135388
rs3135388
0.010 GeneticVariation BEFREE HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica. 20591987

2010

dbSNP: rs3761959
rs3761959
0.010 GeneticVariation BEFREE The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population. 26402798

2015