Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation BEFREE K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. 29242050

2018
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation BEFREE Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. 18076102

2008
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation UNIPROT We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006

1999
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation BEFREE Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. 10377013

1999
dbSNP: rs121913105
rs121913105
FGFR3
0.850 GeneticVariation BEFREE We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. 10053006

1999
dbSNP: rs121913105
rs121913105
FGFR3
C 0.850 CausalMutation CLINVAR

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: 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
G 0.700 CausalMutation CLINVAR

dbSNP: rs587779383
rs587779383
FGFR3
0.010 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000
dbSNP: rs78311289
rs78311289
FGFR3
0.010 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000