Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80053154
rs80053154
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.730 GeneticVariation BEFREE Exome sequencing revealed that the girl was heterozygous for a missense mutation (c.1651A>G, p.Ile538Val) in exon 13 of FGFR3, a known mutation for hypochondroplasia, inherited from her mother. 28763161 2017
dbSNP: rs80053154
rs80053154
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.730 GeneticVariation BEFREE Amino acid substitutions Asn540Lys, Asn540Thr and Ile538Val in the fibroblast growth factor receptor 3 (FGFR3) are considered to cause hypochondroplasia. 11071087 2000
dbSNP: rs80053154
rs80053154
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
0.730 GeneticVariation BEFREE It is difficult to establish whether the Ile538Val substitution is rare in hypochondroplasia patients or whether the individuals, who have a moderate degree of short stature, rarely seek medical help for the short stature and consequently are rarely diagnosed as affected by hypochondroplasia. 10215410 1998
dbSNP: rs80053154
rs80053154
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410529
Disease:
Hypochondroplasia (disorder)
G 0.730 CausalMutation CLINVAR