Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200215055
rs200215055
0.010 GeneticVariation BEFREE Importantly, the magnitude of the IFN-γ response elicited by IgG1 antibodies with CRS-inducing potential was determined by donor FcγRIIIa-V158F polymorphism. 29953319

2019

dbSNP: rs34210653
rs34210653
0.010 GeneticVariation BEFREE Most notably, a missense variant in ALOX15 that causes a p.Thr560Met alteration in arachidonate 15-lipoxygenase (15-LO) confers large genome-wide significant protection against NP (P = 8.0 × 10<sup>-27</sup>, odds ratio = 0.32; 95% confidence interval = 0.26, 0.39) and CRS (P = 1.1 × 10<sup>-8</sup>, odds ratio = 0.64; 95% confidence interval = 0.55, 0.75). p.Thr560Met, carried by around 1 in 20 Europeans, was previously shown to cause near total loss of 15-LO enzymatic activity. 30643255

2019

dbSNP: rs5443
rs5443
0.010 GeneticVariation BEFREE Unique to our study is the establishment of an association between CRS in this patient population and GNB3 SNP rs5443, a variation in an established G protein component downstream of bitterant receptor signal transduction. 31137020

2019

dbSNP: rs7528947
rs7528947
0.010 GeneticVariation BEFREE For two SNPs in a gene recently associated with bitterant signaling regulation, RGS21, there were no associations with CRS (although the frequency of the minor allele of RGS21, rs7528947, was seen to increase with increasing Lund-Mackay CT staging score). 31137020

2019

dbSNP: rs75527207
rs75527207
0.010 GeneticVariation BEFREE Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low. 30472785

2019

dbSNP: rs37973
rs37973
0.010 GeneticVariation BEFREE The rs37973 polymorphism is related to postoperative recovery from CRS for individual sensitivity to glucocorticoids. 30256538

2018

dbSNP: rs12188164
rs12188164
0.010 GeneticVariation BEFREE Statistical significance disappeared among Caucasians when stratified by gender, but persisted among African American women (p = 0.047). rs12188164 and rs12793173 were both more prevalent in African Americans with CRS than controls (p = 0.042 and p = 0.020, respectively). 28236359

2017

dbSNP: rs12793173
rs12793173
0.010 GeneticVariation BEFREE Statistical significance disappeared among Caucasians when stratified by gender, but persisted among African American women (p = 0.047). rs12188164 and rs12793173 were both more prevalent in African Americans with CRS than controls (p = 0.042 and p = 0.020, respectively). 28236359

2017

dbSNP: rs12883884
rs12883884
0.010 GeneticVariation BEFREE A trend was also observed for decreased prevalence of rs12883884 in CRS patients compared with controls in the African American subgroup (p = 0.086). 28236359

2017

dbSNP: rs1884302
rs1884302
0.010 GeneticVariation BEFREE The in vitro results suggest that altered BMP2 regulatory function at rs1884302 may contribute to the etiology of sagittal nonsyndromic craniosynostosis. 28985029

2017

dbSNP: rs1015443
rs1015443
0.010 GeneticVariation BEFREE In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919). 24415641

2014

dbSNP: rs10246939
rs10246939
0.010 GeneticVariation BEFREE This study replicates previous work which showed that the coding SNP rs10246939 in the TAS2R38 gene is associated with CRS. 24415641

2014

dbSNP: rs12226919
rs12226919
0.010 GeneticVariation BEFREE In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919). 24415641

2014

dbSNP: rs12226920
rs12226920
0.010 GeneticVariation BEFREE In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919). 24415641

2014

dbSNP: rs2917454
rs2917454
0.010 GeneticVariation BEFREE In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. 24595210

2014

dbSNP: rs6907229
rs6907229
0.010 GeneticVariation BEFREE In addition to the top significant SNPs rs2917454 and rs6907229, imputation analysis uncovered additional genetic variants in KCNMA1 and in KCNQ5 that were associated with CRS. 24595210

2014

dbSNP: rs886043448
rs886043448
0.010 GeneticVariation BEFREE Our findings showed that c. 8030G>A of DNAH5 may be implicated as the disease-causing gene of CRS and PCD in this Chinese family, which may expand the understanding of clinicians on the pathogenesis of CRS. 24150548

2014

dbSNP: rs2282851
rs2282851
0.010 GeneticVariation BEFREE Major allele homozygosity for CD8A (rs3810831) was associated with a higher frequency of affected relatives (p = 0.052), increased severity as characterized by age at diagnosis (p = 0.009), age at first surgery (p = 0.004), and number of surgeries (p = 0.008), whereas TAPBP (rs2282851) was associated increased risk for CRS (odds ratio [OR] = 2.48, p = 0.0076). 23640800

2013

dbSNP: rs28933372
rs28933372
0.010 GeneticVariation BEFREE A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3 has been reported, whereas diverse and numerous GLI3 mutations have also been described in syndromes with overlapping clinical manifestations, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, trigonocephaly with craniosynostosis and polydactyly, oral-facial-digital syndrome, and non-syndromic polydactyly. 23633388

2013

dbSNP: rs3810831
rs3810831
0.010 GeneticVariation BEFREE Major allele homozygosity for CD8A (rs3810831) was associated with a higher frequency of affected relatives (p = 0.052), increased severity as characterized by age at diagnosis (p = 0.009), age at first surgery (p = 0.004), and number of surgeries (p = 0.008), whereas TAPBP (rs2282851) was associated increased risk for CRS (odds ratio [OR] = 2.48, p = 0.0076). 23640800

2013

dbSNP: rs121918501
rs121918501
0.010 GeneticVariation BEFREE Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis. 22872266

2012

dbSNP: rs1224606327
rs1224606327
0.010 GeneticVariation BEFREE Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis. 21928350

2012

dbSNP: rs1350033384
rs1350033384
0.010 GeneticVariation BEFREE Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis. 21928350

2012

dbSNP: rs4504543
rs4504543
0.010 GeneticVariation BEFREE We identified two SNPs respectively in RYBP (rs4532099, p = 2.15E-06, OR = 2.59) and AOAH (rs4504543, p = 0.0001152, OR = 0.58) significantly associated with whole CRS cohort. 22723975

2012

dbSNP: rs4532099
rs4532099
0.010 GeneticVariation BEFREE We identified two SNPs respectively in RYBP (rs4532099, p = 2.15E-06, OR = 2.59) and AOAH (rs4504543, p = 0.0001152, OR = 0.58) significantly associated with whole CRS cohort. 22723975

2012