Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1015443
rs1015443
PRH1 ; PRR4 ; TAS2R13 ; PRH1-PRR4
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: rs10204137
rs10204137
IL18R1 ; IL1RL1
0.010 GeneticVariation BEFREE Statistically significant allelic associations with CRS were noted for 5 SNPs (rs10204137, p = 0.04; rs10208293, p = 0.03; rs13431828, p = 0.008; rs2160203, p = 0.03, and rs4988957, p = 0.03). 19671251

2009
dbSNP: rs10208293
rs10208293
IL18R1 ; IL1RL1
0.010 GeneticVariation BEFREE Statistically significant allelic associations with CRS were noted for 5 SNPs (rs10204137, p = 0.04; rs10208293, p = 0.03; rs13431828, p = 0.008; rs2160203, p = 0.03, and rs4988957, p = 0.03). 19671251

2009
dbSNP: rs10246939
rs10246939
TAS2R38 ; MGAM
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: rs104893895
rs104893895
MSX2
0.010 GeneticVariation BEFREE These data provide a molecular-level explanation of how the Pro148-->His mutation enhances Msx2 function and thus leads to the dominant craniosynostosis phenotype. 8968743

1996
dbSNP: rs1057518791
rs1057518791
TRPS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518817
rs1057518817
NPR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057520044
rs1057520044
FGFR2
C 0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
dbSNP: rs1060499549
rs1060499549
ZNF462
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060499550
rs1060499550
ZNF462
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499551
rs1060499551
ZNF462
G 0.700 CausalMutation CLINVAR

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: rs121908671
rs121908671
LRP5
0.010 GeneticVariation BEFREE A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. 15940380

2005
dbSNP: rs121909627
rs121909627
FGFR1
0.020 GeneticVariation BEFREE Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1). 10942429

2000
dbSNP: rs121909627
rs121909627
FGFR1
0.020 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753

1997
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. 25809207

2016
dbSNP: rs121913105
rs121913105
FGFR3
0.710 GeneticVariation BEFREE Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? 18583390

2008
dbSNP: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Familial acanthosis nigricans due to K650T FGFR3 mutation. 17875876

2007
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: rs121913105
rs121913105
FGFR3
C 0.710 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
dbSNP: rs121913113
rs121913113
FGFR3
A 0.700 CausalMutation CLINVAR A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. 17033969

2006
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: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. 8589699

1995
dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR Knockdown by shRNA identifies S249C mutant FGFR3 as a potential therapeutic target in bladder cancer. 17384684

2007