Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
A 0.900 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
C 0.900 CausalMutation CLINVAR

dbSNP: rs75790268
rs75790268
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
T 0.850 CausalMutation CLINVAR

dbSNP: rs121913105
rs121913105
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
C 0.800 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
G 0.750 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
A 0.750 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
G 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913114
rs121913114
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
T 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia. 8078586

1994

dbSNP: rs75790268
rs75790268
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.850 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

dbSNP: rs121913105
rs121913105
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.800 GeneticVariation UNIPROT Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586

1994

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation.McKusick et al. proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia. 7670477

1995

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). 7758520

1995

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. 7702086

1995

dbSNP: rs75790268
rs75790268
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.850 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995

dbSNP: rs75790268
rs75790268
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.850 GeneticVariation BEFREE We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C). 7758520

1995

dbSNP: rs75790268
rs75790268
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.850 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995

dbSNP: rs121913105
rs121913105
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.800 GeneticVariation UNIPROT A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. 7758520

1995

dbSNP: rs121913105
rs121913105
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.800 GeneticVariation UNIPROT Achondroplasia is defined by recurrent G380R mutations of FGFR3. 7847369

1995

dbSNP: rs28931614
rs28931614
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.900 GeneticVariation BEFREE Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations. 8682509

1996