Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4954218
rs4954218
0.740 GeneticVariation BEFREE Independent replication of association between two SNPs and keratoconus supports the association of these loci with the risks for the disease development, while the effect of rs4954218 warrants further investigation. 28207827

2017

dbSNP: rs4954218
rs4954218
0.740 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348

2015

dbSNP: rs4954218
rs4954218
0.740 GeneticVariation BEFREE Although the mechanism of disease association is yet to be determined, SNP rs4954218 is associated consistently with keratoconus and likely tags a functional variant that contributes to disease susceptibility. 23833071

2013

dbSNP: rs4954218
rs4954218
0.740 GeneticVariation BEFREE These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus. 21979947

2012

dbSNP: rs4954218
rs4954218
0.740 GeneticVariation GWASCAT These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus. 21979947

2012

dbSNP: rs6430585
rs6430585
0.700 GeneticVariation GWASCAT A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. 21979947

2012

dbSNP: rs8111998
rs8111998
0.700 GeneticVariation GWASCAT A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries. 21979947

2012

dbSNP: rs74315433
rs74315433
0.040 GeneticVariation BEFREE Another heterozygous sequence variant (p.Gly160Val) in the second exon was found in two keratoconus patients. 28950846

2017

dbSNP: rs74315433
rs74315433
0.040 GeneticVariation BEFREE The change in p.G160D was observed in two patients with sporadic keratoconus. 19763142

2010

dbSNP: rs74315433
rs74315433
0.040 GeneticVariation BEFREE The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). 18626569

2008

dbSNP: rs74315433
rs74315433
0.040 GeneticVariation BEFREE Two other sequence changes (L159M and G160D) were associated with keratoconus and PPD, respectively, and involved a region adjacent to the homeodomain. 11978762

2002

dbSNP: rs1324183
rs1324183
0.030 GeneticVariation BEFREE This study confirmed the association of SNP rs1324183 in <i>MPDZ-NF1B</i> with keratoconus and revealed the association of this SNP with keratoconus severity and corneal parameters. 30002070

2018

dbSNP: rs9938149
rs9938149
0.030 GeneticVariation BEFREE Rare variants in ZNF469 do not contribute to keratoconus susceptibility and do not account for the association at rs9938149. 29228253

2017

dbSNP: rs1324183
rs1324183
0.030 GeneticVariation BEFREE The replication association of rs1324183 (MPDZ-NF1B) with KC in our population and the results, which are identical to those in different populations, suggest that rs1324183 (MPDZ-NF1B) is a common genetic risk for KC and should be further investigated. 25675348

2015

dbSNP: rs1536482
rs1536482
0.030 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348

2015

dbSNP: rs1800449
rs1800449
LOX
0.030 GeneticVariation BEFREE Our study demonstrated that the LOX rs1800449 genotypes (AA and GA + AA) and allele (A) appears to confer risk for susceptibility to keratoconus. 24502826

2015

dbSNP: rs1800449
rs1800449
LOX
0.030 GeneticVariation BEFREE In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations. 26713757

2015

dbSNP: rs2288393
rs2288393
LOX
0.030 GeneticVariation BEFREE The current study aimed to investigate the possible associations between two LOX polymorphisms, rs1800449 and rs2288393, and susceptibility to keratoconus. 24502826

2015

dbSNP: rs2288393
rs2288393
LOX
0.030 GeneticVariation BEFREE In contrast, our study lacked sufficient evidences to support the association of rs1800449/rs2288393 with keratoconus across populations. 26713757

2015

dbSNP: rs2721051
rs2721051
0.030 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348

2015

dbSNP: rs2956540
rs2956540
0.030 GeneticVariation BEFREE This meta-analysis suggested that two LOX variants, rs2956540 and rs10519694, may affect individual susceptibility to keratoconus, while distinct heterogeneity existed within this locus. 26713757

2015

dbSNP: rs2956540
rs2956540
0.030 GeneticVariation BEFREE SNP rs1324183 located in MPDZ-NF1B was associated with an increased risk of KC (OR=3.108, 95% CI=1.366-7.072, p=0.005), and SNP rs2956540 in the LOX gene may confer a reduced risk of KC with a borderline p value in our population (OR=0.664, 95% CI=0.447-0.986, p=0.042). 25675348

2015

dbSNP: rs2956540
rs2956540
0.030 GeneticVariation BEFREE This first independent association validation of rs2956540:G>C and rs3735520:G>A suggests that these SNPs may serve as genetic risk markers for KC in individuals of European descent. 25735481

2015

dbSNP: rs4894535
rs4894535
0.030 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348

2015

dbSNP: rs7044529
rs7044529
0.030 GeneticVariation BEFREE SNPs rs4954218 (Near RAB3GAP1 (5')), rs4894535 (FNDC3B), rs2956540 (LOX), rs3735520 (Near HGF (5')), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A1), rs2721051 (Near FOXO1 (3')), rs9938149 (BANP-ZNF469) and rs6050307 (VSX1) were assessed for their association with KC. 25675348

2015