Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
FGFR3
G 0.900 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene. 11746040

2001
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620

2019
dbSNP: rs1318358361
rs1318358361
ARID1B
0.040 GeneticVariation BEFREE Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. 31111620

2019
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. 9600744

1998
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449

2006
dbSNP: rs1318358361
rs1318358361
ARID1B
0.040 GeneticVariation BEFREE P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. 17103449

2006
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. 9042914

1997
dbSNP: rs79184941
rs79184941
FGFR2
0.010 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2010
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2010
dbSNP: rs1318358361
rs1318358361
ARID1B
0.040 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2010
dbSNP: rs374608214
rs374608214
FGFR2
0.040 GeneticVariation BEFREE Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured. 19755431

2010
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. 20592905

2010
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004
dbSNP: rs374608214
rs374608214
FGFR2
0.040 GeneticVariation BEFREE However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004
dbSNP: rs121909627
rs121909627
FGFR1
0.030 GeneticVariation BEFREE However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10. 14613973

2004
dbSNP: rs4647924
rs4647924
FGFR3
0.900 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: rs121913116
rs121913116
FGFR3
T 0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation UNIPROT Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. 9950359

1999
dbSNP: rs4647924
rs4647924
FGFR3
0.900 GeneticVariation BEFREE The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. 22872265

2012