Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1453271838
rs1453271838
FGFR3
0.710 GeneticVariation BEFREE The heterozygous FGFR3 c.1882 G > A variant results in substitution of aspartic acid with asparagine at amino acid 628 (p.D628N) and co-segregated with the phenotype in the LADD family. 28483234

2017
dbSNP: rs1453271838
rs1453271838
FGFR3
A 0.710 CausalMutation CLINVAR