Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917703
rs121917703
FGF3
0.800 GeneticVariation UNIPROT Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799

2008
dbSNP: rs121917706
rs121917706
FGF3 ; LOC107984368
0.800 GeneticVariation UNIPROT Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 18435799

2008
dbSNP: rs121917703
rs121917703
FGF3
0.800 GeneticVariation UNIPROT Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 17236138

2007
dbSNP: rs121917706
rs121917706
FGF3 ; LOC107984368
0.800 GeneticVariation UNIPROT Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 17236138

2007
dbSNP: rs121917703
rs121917703
FGF3
G 0.800 CausalMutation CLINVAR

dbSNP: rs121917706
rs121917706
FGF3 ; LOC107984368
G 0.800 CausalMutation CLINVAR

dbSNP: rs121917704
rs121917704
FGF3
0.710 GeneticVariation BEFREE All individuals homozygous for p.R104X or p.R132GfsX26 had fully penetrant features of LAMM syndrome. 21306635

2011
dbSNP: rs281860303
rs281860303
FGF3
0.710 GeneticVariation BEFREE Molecular modeling result suggests a less drastic effect of p.R95W on FGF3 function compared with known missense mutations detected in fully penetrant LAMM syndrome. 21306635

2011
dbSNP: rs121917704
rs121917704
FGF3
A 0.710 CausalMutation CLINVAR

dbSNP: rs281860303
rs281860303
FGF3
A 0.710 CausalMutation CLINVAR

dbSNP: rs121917705
rs121917705
FGF3 ; LOC107984368
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554981083
rs1554981083
FGF3
GA 0.700 CausalMutation CLINVAR

dbSNP: rs281860300
rs281860300
FGF3 ; LOC107984368
C 0.700 CausalMutation CLINVAR

dbSNP: rs281860301
rs281860301
FGF3 ; LOC107984368
T 0.700 CausalMutation CLINVAR

dbSNP: rs281860302
rs281860302
FGF3
C 0.700 CausalMutation CLINVAR

dbSNP: rs281860304
rs281860304
FGF3
C 0.700 CausalMutation CLINVAR

dbSNP: rs281860305
rs281860305
FGF3
A 0.700 CausalMutation CLINVAR

dbSNP: rs281860306
rs281860306
FGF3
C 0.700 CausalMutation CLINVAR

dbSNP: rs281860307
rs281860307
FGF3
C 0.700 CausalMutation CLINVAR

dbSNP: rs782712529
rs782712529
FGF3
C 0.700 GeneticVariation CLINVAR