| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | GeneticVariation | BEFREE | In conclusion, this study confirmed the association between two GWAS SNPs in SIX6 (rs33912345 and rs10483727) and POAG. | 30586556 | 2019 |
||||
|
0.070 | GeneticVariation | BEFREE | This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with POAG. | 31284308 | 2019 |
||||
|
0.070 | GeneticVariation | BEFREE | The protein-coding SIX6 variant rs33912345, previously associated with POAG, has a functional effect on glaucoma-associated optic nerve head traits in Europeans. | 30005032 | 2018 |
||||
|
0.070 | GeneticVariation | BEFREE | This study replicated the association of POAG with two SNPs at the SIX1-SIX6 locus and demonstrated that SNPs, rs10483727 and rs33912345, are significantly associated with POAG, especially with NTG in patients aged above 40 years. | 27260188 | 2016 |
||||
|
0.070 | GeneticVariation | BEFREE | The SNPs rs4656461 and rs7555523 at TMCO1, rs523096 and rs2157719 at CDKN2B-AS1, as well as rs33912345 and rs10483727 at SIX1/SIX6 showed statistically significant association with POAG. | 25711633 | 2015 |
||||
|
0.070 | GeneticVariation | BEFREE | We sequenced the SIX6 coding and regulatory regions in 262 POAG cases and 256 controls and identified six nonsynonymous coding variants, including five rare and one common variant, Asn141His (rs33912345), which was associated significantly with POAG (OR = 1.27, p = 4.2×10(-10)) in the NEIGHBOR/GLAUGEN datasets. | 24875647 | 2014 |
||||
|
0.070 | GeneticVariation | BEFREE | Using 1000 genomes-based imputation of four independent population-based cohorts in the Netherlands, we identified a missense variant rs33912345 (His141Asn) in SIX6 associated with VCDR (Pmeta = 7.74 × 10(-7), n = 11 473) and POAG (Pmeta = 6.09 × 10(-3), n = 292). | 24150847 | 2014 |