Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5443
rs5443
GNB3 ; CDCA3
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
RGS21
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: rs34210653
rs34210653
ALOX15
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: rs75527207
rs75527207
CFTR
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
GLCCI1 ; GLCCI1-DT
0.010 GeneticVariation BEFREE The rs37973 polymorphism is related to postoperative recovery from CRS for individual sensitivity to glucocorticoids. 30256538

2018
dbSNP: rs200215055
rs200215055
FCGR3B
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: 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: rs776587763
rs776587763
FGFR2
0.710 GeneticVariation BEFREE C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients. 28849010

2017
dbSNP: rs121918487
rs121918487
FGFR2
0.710 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902

2017
dbSNP: rs79184941
rs79184941
FGFR2
0.050 GeneticVariation BEFREE Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases. 28790902

2017
dbSNP: rs121913485
rs121913485
FGFR3
G 0.700 CausalMutation CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712

2017
dbSNP: rs12188164
rs12188164
AHRR
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
LOC102723568
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
SLC8A3
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: rs4647924
rs4647924
FGFR3
0.800 GeneticVariation BEFREE Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding. 27568649

2016
dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation. 26818779

2016
dbSNP: rs4647924
rs4647924
FGFR3
G 0.800 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs786200952
rs786200952
KAT6A
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015
dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28931614
rs28931614
FGFR3
C 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014